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BIOL1191 > Chapter 29 - Development & Inheritance > Flashcards

Chapter 29 - Development & Inheritance Flashcards

1
Q

Conception

A

The start of pregnancy when a male germ cell fertilizes the female germ cell

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2
Q

3 Steps of Fertilization

A
  1. Penetration of secondary oocyte by sperm cell
  2. Triggering of completion of Meiosis 2
  3. Syngamy (Fusion of pronuclei) of ovum & spermatozoa -> zygote
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3
Q

Capacitation

A

When sperm are acted upon by female secretions in order to:

  • Increase motility
  • Partially digest membrane covering sperm cell’s head (Aids in penetration of membrane + chemo-attraction of sperm cell)
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4
Q

ZP3 Receptors

A

Receptors find in zona pellucida of ovum that sperm cell head proteins bind to

  • Sperm cell loses its middle piece & flagellum in zygote formation; all embryo mitochondria comes from secondary oocyte
  • Only around 300 out of 300 mil. sperm cells reach secondary oocyte
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5
Q

2 Enzymes for Fertilization

A
  1. Acrosome hyaluronidaise
  2. Acrosome protease
    * Both help access secondary oocyte, digesting intracellular matrix between corona radiata cells & zona pellucida
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6
Q

Polyspermy

A

Fertilization of an egg by multiple sperm

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7
Q

2 Steps of Polyspermy Prevention

A
  1. Depolarization of secondary oocyte’s plasma membrane

2. Release of chemicals that deactivate ZP3 receptors

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8
Q

Monozygotic Twins, Triplets…

A

=Identical clones, result of separation of developing embryonic cells
-Usually occurs 8 days post-fertilization

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9
Q

Dizygotic Twins, Trizygotic Triplets

A

Representations of 2 or 3 separate syngamy events respectively

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10
Q

Cleavage

A

=Rapid mitotic divisions of the zygote, resulting in increased numbers of progressively smaller “blastomeres”

  • Begins 24 hours after fertilization
  • By 96 hours, cleavage -> morula
  • Uterine milk -> differentiation of morula -> blastocyst
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11
Q

Human Embryo

A

Organism from fertilization to end of 8th week in utero

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12
Q

Implantation

A

=Attachment of the blastocyst to the lining of the uterus followed by its burrowing into stratum functionalis

  • Usually occurs on posterior wall of uterine fundus or body 6-7 days post-fertilization
  • Embryoblast orients itself closest to endometrial lining
  • Trophoblast enzymes digest the endometrial surface
  • Implantation -> increased endometrial glands -> increased vascularity
  • Following implantation, endometrium called the “decidua”
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13
Q

Human Fetus

A

Unborn child from 9th week to delivery

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14
Q

Gestation

A

Period of intra-uterine development

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15
Q

Parturition

A

Childbirth

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16
Q

6 Stages of Embryonic Development

A
  1. Cleavage
  2. Implantation
  3. Gastrulation
  4. Extraembryonic Membrane Formation
  5. Placenta & Umbilical Cord Formation
  6. Organogenesis

*First 3 happen within weeks 1-8

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17
Q

Morula

A
  • Solid ball of totipotent stem cells, capable of making any cell in body or extrasomatic structures of embryofetus
  • Morula surrounded by zona pellucida
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18
Q

2 Parts of the Blastocyst

A
  1. Embryoblast: Inner cell mass; made of pluripotent stem cells, become the 3 embyonic germ layers
  2. Trophoblast: Outer layer; becomes chorion during 2nd week w/ extra-embryonic mesoderm
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19
Q

4 Examples of Multipotent Stem Cells

A
  1. Basal Keratinocytes - Found in skin
  2. Myeloid Stem Cells - Found in bone marrow
  3. Lymphoid Stem Cells - Found in lymphatic tissue
  4. Oogonia & Spermatogonia - Found in gonads

*All can develop into one or more cell type

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20
Q

Somatic Cell Nuclear Transfer

A

A type of therapeutic cloning in which the nuclear material from a human somatic cell is used to replace the nuclear material from a human oocyte

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21
Q

2 Types of Somatic Cell Nuclear Transfer

A
  1. Autologous SCNT: Patient’s own somatic cell is used; no immunosuppressive therapy required
  2. Heterologous SCNT: Somatic cell from different individual used; immunosuppressive therapy required
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22
Q

3 Decidual Regions of the Embryo

A
  1. Decidua Basalis: Located between stratum basalis & embryo; becomes maternal portion of placenta
  2. Decidua Capsularis: Located between implanted embryo & uterine cavity
  3. Decidua Parietalis: Rest of endometrium
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23
Q

Ectopic Pregnancy

A

=”Out of normal place” pregnancy (e.g., uterine tube, ovary, visceral peritoneum, or cervical canal)

  • May result in scarring of uterine tubes
  • Smoking may cause implantation within uterine tube
  • Leads to a missed menstrual period, then bleeding & acute abdominopelvic pain
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24
Q

Eutopic Pregnancy

A

=Normal implantation

-Occurs within endometrium

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25
Q

2 Layers of Trophoblastic Cells

A
  1. Synctiotrophoblastic Layer: A multinucleate cell mass w/o a distinguishable cellular membrane boundary
  2. Cytotrophoblastic Layer: Inner layer; secures placenta to endometriumn + forms part of chorion w/ synctiotrophoblasts
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26
Q

2 Functions of Human Chorionic Gonadotropin (HCG)

A
  1. Prevents degeneration of corpus luteum, maintains production of progesterone & estrogen, inhibin & relaxin
  2. Causes corpus luteum to make even more progesterone, which maintans secretory endometrium

*Produced by the placenta & chorion

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27
Q

Pregnancy Testing

A

Tests that determine whether a female is pregnant or not by detecting HCG in urine; can be as early as the 1st day of missed period

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28
Q

4 Causes of False Positive Pregnancies

A
  1. Blood or protein in urine
  2. Drugs
  3. Choriocarcinoma (cancer in the womb/uterus)
  4. Missed abortion
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29
Q

2 Causes of False Negative Pregnancies

A
  1. Ectopic pregnancy

2. Premature testing

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30
Q

Gastrulation

A

=Transformation of the blastula into the gastrula

  • Occurs during the 2nd & 3rd weeks post-fertilization
  • Conversion of embryoblast initially into bi-laminar embryo
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31
Q

2 Layers of the Bi-laminar Embryo

A
  1. Hypoblast = Inner cell mass; made of cuboidal epith.

2. Epiblast = Outer layer; becomes meso- and ecto-derm

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32
Q

3 Layers of the Tri-laminar Embryo/3 Primary Germ Layers

A
  1. Ectoderm = Formed from epiblast
  2. Mesoderm = Also formed from epiblast
  3. Endoderm = Formed from hypoblast

*Occurs at around day 16

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33
Q

4 Steps of Gastrulation

A
  1. Primitive streak forms; establishes polarity of embryo
  2. Epiblast invagination along primitive streak creates space between epiblast & hypoblast
  3. Epiblast cells move into space; creating loosely-organized mesoderm
  4. Mesoderm + epiblast + hypoblast -> tri-laminar embryo (3 primary germ layers)
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34
Q

Ectoderm

A
  • Becomes epidermis & nerve tissue
  • Notochord -> neural plate
  • Neural plate undergoes neurulation -> neural groove
  • Neural groove -> neural tube
  • Nervous system develops from neural tube & neural crest
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35
Q

3 Primary Brain Vesicles

A
  1. Prosencephalon; becomes telen- & dien-cephalon
  2. Mesencephalon
  3. Rhombencephalon

*Neural tube below rhombencephalon becomes spinal cord

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36
Q

Neural Crest

A

Develops into PNS, meninges, adrenal medullae, skin melanocytes & certain CTs

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37
Q

2 Types of Neural Tube Defects

A
  1. Spina Bifida = Malformation of vertebral arches -> herniation
  2. Anencephaly = Malformation of cranial bones & missing cerebrum

*Both often due to folic acid deficiency

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38
Q

Mesoderm (2 Parts)

A
  1. Splanchic Mesoderm
  2. Somatic Mesoderm

*Both formed from lateral plate mesoderm, which are split up by the intraembryonic coelom

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39
Q

Splanchic Mesoderm

A

Forms the smooth muscle & CT of GI & respiratory tracts, heart, blood vessels & visceral layer of the serous membranes

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40
Q

Somatic Mesoderm

A

Forms the bones, blood vessels & other CTs of the limbs & parietal layer of the serous membranes

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41
Q

Somites

A

Paired, cube-shaped structures that are formed from the paraxial mesoderm

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42
Q

3 Regions of Somites Along Neural Tube

A
  1. Myotome: Develops into skeletal muscles
  2. Sclerotome: Develops into vertebral column & ribs
  3. Dermatome: Develops into dermis
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43
Q

Angiogenesis

A
  • Extraembryonic mesoderm -> hemangioblasts -> angioblasts -> blood islands -> network of blood vessels
  • Hemangioblasts of yolk sac, allantois & chorion -> blood cells
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44
Q

Cardiogenic (Heart) Area

A
  • Becomes endocardial tubes, which become the primitive heart tubes
  • Heart becomes connected w/ blood vessel network
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45
Q

Endoderm

A

Develops into epithelia of respiratory tract, digestive tract, liver, pancreas & some endocrine glands

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46
Q

4 Extraembryonic Membranes

A
  1. Yolk Sac
  2. Amnion
  3. Allantois
  4. Chorion
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47
Q

Yolk Sac

A
  • Formed by hypoblast cells around blastocyst wall
  • The nutrient source for human embryo during weeks 2 & 3
  • Becomes a site of blood cell formation during weeks 3-6
  • Develops into primordial cells that travel to gonads & develop into gametes
  • Becomes incorporated into umbilical cord & primitive gut
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48
Q

Amnion

A
  • Formed by epiblast cells
  • Amniotic cavity forms between amnion & epiblast
  • Eventually surrounds the embryo
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49
Q

Oligohydramnios

A

Deficiency of amniotic fluid due to bilateral agnesis of kidneys

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50
Q

4 Functions of Amniotic Fluid

A
  1. Mantain constant temperature
  2. Fetal movements
  3. Shock absorber
  4. Prevents desiccation
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51
Q

Amniocentesis

A
  • Removal of 10-30 mL of amniotic fuild (containing amniocytes) for analysis
  • Performed at 14-18 weeks
  • Allows karyotyping of chromosomes
  • Risk of spontaneous abortion
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52
Q

Allantois

A
  • The caudal vascularized outpocketing of the yolk sac extending into connecting stalk, which connects embryo into trophoblastic tissue
  • Connecting stalk becomes umbilical cord
  • Blood vessels of allantois become umbilical vein & 2 umbilical arteries
  • Allantois eventually incorporated into urinary bladder

*Embrio, amnion & yolk sac suspended within extra-embryonic coelom

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53
Q

Chorion

A
  • Is the combination of extraembryonic mesoderm + synctiotrophoblastic & cytotrophoblastic tissues
  • Is the outermost fetal membrane
  • Forms from trophoblast
  • Yolk sac -> mesenchyme, which surrounds bilaminar embryo/ yolk sac/ amnion
  • Extra-embryonic coelom -> chorionic cavity
  • Helps form the placenta
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54
Q

5 Functions of the Placenta

A
  1. Allows exchange of O2/CO2 & nutrients & wastes
  2. Protects embryo/fetus from mother’s immune system & microbes
  3. Makes HCG
  4. Produces estrogen & progesterone between months 3-6 of pregnancy
  5. Stores nutrients for fetal use
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55
Q

Placenta & Umbilical Cord Formation

A
  • Following blastocyst implantation, syntiotrophoblasts open up lacunae, which become lacunar networks
  • Endometrial capillaries -> maternal sinusoids
  • Synchtiotrophoblasts erode sinusoids & endometrial glands
  • Chorionic villi extend into the lacunae
  • Blood capillaries develop in chorionic villi, which connect to embryonic heart via blood vessels of connecting stalk
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56
Q

Chorionic VIlli

A

=Fingerlike projections of cytotrophoblastic + synctiotrophoblastic tissue that extend into the lacunae (AKA “Intervillous Spaces”)

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57
Q

Placentation

A
  • Decidua Basalis & Embryonic Chorion form the placenta
  • Connecting stalk becomes umbilical cord, which connects fetus to placenta
  • Umbilical vein & two umbilical arteries embedded in Wharton’s jelly (made by allantois)
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58
Q

Umbilical Vein

A

Blood vessel that carries O2 and nutrient-rich blood to the embryo/fetus

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59
Q

Umbilical Arteries

A

Blood vessels that return waste-containing O2-poor blood to the placenta

60
Q

3 Actions of Progesterone & Estrogen

A
  1. Inhibit FSH & LH release
  2. Maintain endometrial lining
  3. Mammary gland development
61
Q

Oral Contraceptives

A

=Orally ingested progesterone & various progestins

  • Used to inhibit GnRH, which inhibits FSH & LH release
  • Leads to inhibition of ovarian follicle development
62
Q

3 Commercial/Medical Uses of the Placenta

A
  1. Grafting
  2. Cord Blood
  3. Hormone Extraction (Human placental growth factors 1 & 2, placental lactogen/hCS)
63
Q

Miscarriage

A

=Early lacking of HCG, which leads to corpus luteum degeneration

  • Leads to cessation of estrogen & progesterone
  • Ultimately causes endometrial sloughing
64
Q

Placental Previa

A

Implantation of blastocyst near internal cervical os

65
Q

Events During 4th Week Post-fertilization

A
  • Embryonic folding (flat tri-laminar embryo) -> cylindrical embryonic form
  • Rapid growth of neural tube -> head & tail folds
  • Lateral folding around upper yolk sac -> primitive gut -> foregut, midgut, hindgut
  • Stomodeum & foregut in close proximity, separated by oropharyngeal membrane
  • Hindgut -> cloaca
  • Urorectal septum divides cloaca -> urogenital sinus & anorectal canal
  • Allantois incorporated into urinary bladder
  • Cloaca in close proximity to proctodeum, separated by cloacal membrane
  • Development of six paired pharyngeal arches
66
Q

Pharyngeal Clefts

A

Grooves that separate the pharyngeal arches

67
Q

Pharyngeal Pouches

A

Outgrowths of the endodermal pharyngeal lining

68
Q

Otic Placodes

A

Area of the ectoderm that become the future ears

69
Q

Lens Placodes

A

Area of the ectoderm that become the future eyes

70
Q

Upper Limb Buds

A

Outgrowths of the mesoderm and ectoderm which become the future upper limbs

71
Q

Lower Limb Buds

A

Outgrowths of the mesoderm and ectoderm which become the future lower limbs

72
Q

Events During 5th Week Post-fertilization

A

Head & brain development

73
Q

Events During 6th Week Post-fertilization

A

Heart develops

74
Q

Events During 7th Week Post-fertilization

A

Hand & foot digits develop

75
Q

Events During 8th Week Post-fertilization

A

Eyes & ears develop

76
Q

Events During the end of Week 8

A
  • External genitalia differentiate
  • Tail disappears
  • Finger/toe webbing also disappear
77
Q

Fetal Development

A
  • 3rd & 4th Months: Skeletal system develops & gender differentiation occurs
  • 5th to 9th Months: Rapid weight gain of fetus occurs
78
Q

Calculation of “Due Date”

A

Usually occurs 280 days from start of last menstruation

79
Q

Teratogens

A

=Factors that may cause severe congenital anomalies

  • Includes substances such as alcohol, nicotine & various drugs
  • Are most harmful in first trimester
  • Can pass through placenta due to placenta being fairly porous
80
Q

Fetal Alcohol Syndrome (FAS)

A

=When ethanol enters the placenta & causes:

  • Decreased fetal & infant size
  • Mental retardation
  • Organ defects
  • Limb deformity
  • Hyperactivity
81
Q

Mechanism of FAS

A

Ethanol indirectly causes adverse effects by causing the production of acetaldehyde

82
Q

Cocaine Use During Pregnancy

A

Causes growth retardation, deformity & apnea

83
Q

Cigarette Smoking During Pregnancy

A

Causes low birth-weight babies & increased risk of feral/infant mortality

84
Q

Radiation & Pregnancy

A

Causes skeletal deformity & microcephaly

85
Q

Events During the 3 Trimesters

A
  1. First Trimester: Organogenesis
  2. Second Trimester: Organ system development
  3. Third Trimester: Rapid fetal growth
86
Q

4 Types of Prenatal Diagnostic Tests

A
  1. Ultra-Sound
  2. Amniocentesis
  3. Chorionic Villi Sampling
  4. Non-Invasive Prenatal Testing
87
Q

Ultra-Sound (US)

A
  • High frequency soundwaves -> image (“sonogram”)
  • Assesses embryo/fetal viability, growth, possible fetal anomalies, maternal reproductive abnormalities & multiparity
  • Guide needle insertion in amniocentesis & in chorionic villous sampling
  • Some risks to embryo/fetus due to thermal & shear stress
88
Q

Chorionic Villi Sampling

A
  • Ultras-sound guided insertion of catheter through vagina & cervical canal to placenta
  • Performed during weeks 8-10
  • Has a small risk of spontaneous abortion
89
Q

Non-Invasive Prenatal Testing

A
  • Exampe: Maternal Alpha Fetoprotein Testing

- If abnormally increased after week 16, a neural tube defect is present

90
Q

4 Types of Hormones of Pregnancy

A
  1. Estrogen, Progesterone & HCG
  2. Relaxin
  3. Human Chorionic Somaromammotropin
  4. Corticotropin Releasing Hormone
91
Q

Estrogen, Progesterone & HCG (Pregnancy)

A
  • During first 3-6 months of pregnancy, corpus luteum secretes estrogen & progesterone
  • From months 6-9, placenta secretes estrogen & progesterone
  • Increased progesterone causes myometrium to relax & tightens cervix
92
Q

Relaxin

A
  • Inhibits uterine contractions during pregnancy

- Relaxes the pubic symphysis at parturition

93
Q

Human Chorionic Somatomammotropin

A
  • Prepares mammary glands for lactation
  • Stimulates protein synthesis
  • Decreases glucose use by mother (hyperglycemia can cause possible gestational diabetes & fetal beta-cell hyperplasia)
  • Increase lipolysis & beta-oxidation of fatty acids
94
Q

Corticotropin Releasing Hormone

A
  • Increases in maternal blood until childbirth; functions as a clock-hormone (Determines time of parturition)
  • Increasing CRH -> Increasing ACTH -> Increasing cortisol -> Fetal lung development & surfactant production
  • Increased cortisol -> Hyperglycemia -> Possible gestational diabetes & fetal beta-cell hyperplasia
95
Q

4 Physical Changes in Pregnant Mother

A
  1. Compression of abdominopelvic organs
  2. Increase in total body weight & water
  3. Increase in breast size
  4. Lordosis of the spine
96
Q

3 Cardiovascular System Changes in Pregnant Mother

A
  1. Increased cardiac output
  2. Increased blood volume
  3. Possible renal artery compression (possible mechanism of renal hypertension)
97
Q

4 Respiratory Tract Changes in Pregnant Mother

A
  1. Increased tidal volume
  2. Increased O2 consumption
  3. Decreased bronchial airway resistance
  4. Dyspnea (Shortness of breath due to upward compression)
98
Q

4 Gastrointestinal Changes in Pregnant Mother

A
  1. Increased appetite
  2. Constipation
  3. Nausea/vomiting
  4. Increased Risk of Gastro-intestinal Reflux Disease
99
Q

3 Urinary System Changes in Pregnant Mother

A
  1. Increased urinary frequency, urgency & stress incontinence
  2. Increased renal blood flow & glomerular filtration rate
  3. Increased risk of bladder & kidney infections
100
Q

4 Skin Changes in Pregnant Mother

A
  1. Chloasma (Tanning/dark skin coloration)
  2. Linea nigra (Dark line from pubis symphysis to umbilicus)
  3. Pigmentation of areolae
  4. Striae (Stretch marks)
101
Q

3 Reproductive System Changes in Pregnant Mother

A
  1. Increased uterine weight due to myometrial hyperplasia & hypertrophy
  2. Edema of vulva
  3. Vascularity of vulva & vagina
102
Q

Pregnancy-induced Hypertension

A

=Sudden onset of hypertension, proteinuria & generalized edema

  • Cause is unknown
  • Eclampsia (sudden onset of seizures) can occur if left untreated
103
Q

Initiation of Labor

A

Increased estrogen & decreased progesterone levels in maternal blood signal the initiation of labor

104
Q

Mechanism of Labor

A
  • Increased placental CRH -> Increased fetal pituitary ACTH -> Increased fetal adrenal cortisol & DHEA
  • Placental aromatase converts DHEA into estrogen
  • Fetal cortisol -> decreased placental progesterone synthesis, permitting oxytocin-induced uterine contractions
105
Q

3 Actions of Estrogen During Labor

A
  1. Upregulation of uterine oxytocin receptors
  2. Uterine smooth muscle cells to form gap junctions
  3. PG synthesis -> Enzymatic digestion of cervix
106
Q

5 Steps of Labour Contractions

A
  1. Maternal oxytocin is released
  2. Uterine contractions occur
  3. Baby’s head enters cervical canal
  4. Cervix is stretched
  5. Stretch receptors signal hypothalamus to release more oxytocin
107
Q

Delayed Delivery

A

=When parturition is delayed past due date

-If delayed for > 2 weeks, risk for fetal hypoxia occurs

108
Q

3 Stages of Childbirth

A
  1. Cervical Dilation: Onset of strong, regular rhythmic uterine contractions until cervix is fully dilated
  2. Expulsion of the Fetus: From full cervical dilation unti birth
  3. Delivery of the Afterbirth: Delivery of placenta & attached fetal membranes; umbilical cord tied off & cut
109
Q

Benefit of Pitocin Medication

A

Decreased risk of uterine hemorrhage & decreased risk of Sheehan Syndrome

110
Q

Peurperium

A

=Period of 6 weeks after delivery

  • Involution/weight loss of uterus
  • Cervical changes (Becomes smaller & firmer)
  • Lochia (Discharge of blood from uterus)
111
Q

Dystocia

A

=Painful/difficult labor

-Example: Breech presentation (When the feet & buttocks appear first during birth)

112
Q

Respiratory Changes in the Newborn

A
  • First breath triggered by hypercapnia (increase in CO2)
  • Ventilatory rate of newborn: 45 breaths/min
  • Prematurity problems: If birthweight < 2.5 kg, baby is at risk of developing respiratory distress syndrome of the newborn
113
Q

6 Circulatory Changes in Newborn

A
  1. Foramen ovale closes; becomes fossa ovalis
  2. Ductus arteriosus closes
  3. Umbilical vein & 2 arteries degenerate (vein becomes ligamentum teres; arteries become medial umbilical ligaments)
  4. Ductus venosus becomes ligamentum venosum
  5. Blood cell composition changes: Increased red blood cells & decreased white blood cells
  6. Heart rate changes: 120-180 beats/min
114
Q

Mechanism of Ductus Arteriosus Closure

A

-Lung inflation occurs -> Bradykinin is released -> Ductus arteriosus constricts

115
Q

3 Digestive Changes in Newborn

A
  1. Meconium: Earliest stool of the infant
  2. Stomach begins to secrete acid
  3. Lactose can be digested
116
Q

Inheritance

A

Acquisition of traits by transmission of genetic information from parents to offspring

117
Q

Genetics

A

The study of genes & heredity

118
Q

Genome

A

Complete gene complement of an organism

119
Q

Karyotype

A

Complete diploid set of chromosomes

120
Q

Gene

A

Biological unit of heredity

121
Q

Alleles

A

Alternate forms of the same gene, coding for alternate versions of the same inherited trait

122
Q

Homozygous

A

Term used when an allele pair is identical for a given trait

123
Q

Heterozygous

A

Term used when alleles at same locus on 2 homologues differ for a given trait

124
Q

Genotype

A

Total hereditary information carried by an individual

125
Q

Phenotype

A

Observable expression of genotype; determined by the genotype, gene interactions, and environmental factors

126
Q

Mutation

A

Permanent genetically-transmittable change in structure of a gene

127
Q

Nondisjunction

A

Error in meiosis in which chromosomes are not evenly divided between two daughter cells; causes aneuploidy in resulting zygote

128
Q

Translocation

A

Fusion of parts of two non-homologous chromosomes

129
Q

Dominant Allele

A

Version of a gene that is expressed when present in either single or double gene dose

130
Q

Recessive Allele

A

Version of a gene that must be present in double gene dose to be expressed

131
Q

Genetic Disorders

A

=Disorders that usually reflect homozygous recessive conditions
*If a dominant allele codes for a lethal defect, the individual will likely die in utero

132
Q

2 Examples of Genetic Disorders (Dominant Alleles)

A
  1. Huntington’s disease

2. Achondroplasia

133
Q

3 Examples of Recessive Genetic Disorders

A
  1. Cystic fibrosis
  2. Tay-Sachs disease
  3. Phenylketonuria
    * Carriers = heterozygotes who carry a deleterious recessive gene but do not express trait
134
Q

Consanguinous Marriage

A

A union between two individuals who are related as second cousins or closer

135
Q

Phenylketonuria (PKU)

A
  • A disorder that disables manufacturing of phenylalanine hydroxylase
  • Causes inability to utilize phenylalanine, which leads to brain damage
136
Q

Punnett Square

A

=Diagram used to calculate risk of transmission of PKU to an offspring of a marriage
-For (Pp)*(Pp), on average, if 4 offspring are produced:
1 = normal homozygous dominant
2 = heterozygous dominant
1 = affected homozygous recessive

  • P = dominant allele
  • p = recessive allele
137
Q

Incomplete Dominance

A
  • Heterozygote phenotype is intermediate between homozygous dominant & homozygous recessive
  • Example: In Sickle Cell Disease, SCD heterozygotes express both HbA and HbS phenotypes

*Intra-erythrocytic phase of malarial parasitic infection cannot occur due to HbS in RBCs

138
Q

Multiple Allele Inheritance

A
  • Involves genes that exist in more than 2 allele forms in the population
  • Example: Inheritance of ABO blood types (3 possible alleles): I(A), I(B), I(o))
  • I(A) and I(B) = co-dominant alleles
  • I(O) = recessive allele
139
Q

Genotypes & Phenotypes for Blood Typing

A

Blood Type A = I(A)I(A) or I(A)I(O)
Blood Type B = I(B)I(B) or I(B)I(O)
Blood Type AB = I(A)I(B)
Blood Type O = I(O)I(O)

140
Q

Sex Chromosome

A

=23rd pair of chromosomes in a human genome; can be XX or XY

  • Traits encoded on these chromosomes are “sex-linked”
  • Most gene alleles present only on X chromosome are present in males (X-linked trait)
141
Q

2 Examples of X-linked genetic traits

A
  1. Hemophilia

2. Red-green color blindness

142
Q

SRY

A

=Sex-determining Region of the Y chromosome; a molecular switch to turn on/off male-pattern development

  • When SRY is present, embryo will become a male
  • When SRY is absent, embryo will become a female
143
Q

X-Chromosome Inactivation

A

=A random event that causes the inactivation of an X-chromosome
*Barr body = permanently active X-chromosome

144
Q

Polygenic Inheritance

A

Interaction of several gene pairs to produce phenotypes

145
Q

Complex Inheritance

A

=When an inherited trait is controlled by many genes and environmental influences
-Examples: height, build, skin color

BIOL1191 (13 decks)

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