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MCN568 > NANN genetics > Flashcards

NANN genetics Flashcards

1
Q

genetics

A

The science of human biologic

variation

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2
Q

mutation

A

A permanent, hereditary change

in the sequence of the DNA

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3
Q

DNA

A

A doublestranded nucleic acid built of nucleotides
containing a phosphate group, a nitrogenous base (adenine, thymine, guanine, or
cytosine), and the sugar deoxyribose

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4
Q

Chromosome

A

Structural unit composed of
DNA on a framework of protein. Chromosomes carry genetic information. Each human cell has
23 pairs of chromosomes.

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5
Q

Autosome

A

Nonsex chromosome; each

human cell has 22 pairs of autosomes

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6
Q

Sex chromosome

A

Chromosome that contains the genes determining sex; each human cell has two sex chromosomes (i.e.,
one pair). Based on their appearance, the
chromosomes of males are identified as
XY and those of females as XX

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7
Q

Karyotype

A

the chromosome constitution of an individual

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8
Q

gene

A

a sequence of chromosomal DNA that can specify the sequence of aminoacids in a particular polypeptide, inherited form parents

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9
Q

Allele

A

Alternate form of a gene found at the same locus (position) on homologous (the same or similar)
chromosomes. Alleles segregate during meiosis, and an individual receives only one of each pair of alleles from
each parent. Only two alleles can be present in any one individual

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10
Q

Homozygous

A

Having two identical alleles for a particular gene

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11
Q

heterozygous

A

Having two different alleles for a particular gene

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12
Q

genotype

A

An individual’s genetic constitution; the alleles present at one locus

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13
Q

Phenotype

A

The observed biochemical, physiological, and morphological characteristics of an individual (e.g.,
blue eyes, fair skin), as determined by his or her genotype and the environment in which it is expressed

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14
Q

Pedigree

A

A standard chart that simultaneously displays family relationships and phenotypes. A pedigree is constructed of shapes connected by lines.

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15
Q

cell division

A

mitosis (one division-used for growth, repair and asexual reproduction) and meiosis (two divisions- use for sexual reproduction)

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16
Q

nondisjunction

A

most frequent cause of all chromosome disorders; occurs when paired chromosomes fail to separate during cell division; example: before fertilization: trisomy or monosomy; after fertilization: mosaicism

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17
Q

trisomy

A

three copies of one chromosome are present in one cell

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18
Q

monosomy

A

one chromosome from a pair is missing

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19
Q

polyploidy

A

The presence of any multiple of the basic haploid chromosome number (n) other than the diploid number (2n; e.g., 3n [69 chromosomes], 4n [92 chromosomes])

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20
Q

chromosomal structure abnormalities

A

deletion, duplication, inversion, nonreciprocal translocation, reciprocal translocation

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21
Q

deletion

A

A missing sequence of DNA or a

missing part of a chromosome

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22
Q

duplication

A

An extra copy of a gene or DNA sequence, usually caused by misaligned pairing in meiosis

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23
Q

inversion

A

A part of a chromosome that has moved from its normal location; the normal sequence may be reversed

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24
Q

nonreciprocal translocation

A

A piece that has broken off of one chromosome and become attached to another chromosome

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25
Q

reciprocal translocation

A

Exchange of parts between two chromosomes. If the chromosome exchange does not break any genes,
then the person is healthy and is called a translocation carrier

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26
Q

Autosomal Abnormalities examples

A

Trisomy 21, 18, 13, Cri du chat

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27
Q

Sex chromosome abnormalities

A

monosomy X(Turner); XXX syndrome; XXY (Klinefelter syndrome); XYY syndrome

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28
Q

Trisomy 21/ Downs syndrome

A

most common, maternal age; nondisjunction: FEATURES: Hypotonia, flatted facial profile, poor moro, hyperflex joints, excess skin on the back of the neck, slanted palpebral fissures, dysplasia of pelvis, anomalous auricles, congenital heart defects, transverse palmar crease; GI anomalies: duodenal atresia; IQ 50; males always infertile, age span 49

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29
Q

Trisomy 18/ Edward syndrome

A

95% aborted; female to male 3:1’ advance maternal age; FEATUREs: severe mental deficiency, congenital heart defects, clenched hands overlapping fingers; severe hypotonia, prominent occiput, single umbilical artery, short sternum; survival average 14.5 days

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30
Q

cryptorchidism

A

undescended testis

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31
Q

ptosis

A

drooling eyelids

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32
Q

Trisomy 13/ Patau syndrome

A

FEATURES: severe mental deficiency; congenital heart defects; cleft lip and palete; holoprosencephaly, microcephaly, microphthalmia, deafness, polydyctaly, skin effects of posterior scalp; median survival age 7 days

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33
Q

holoprosencephaly

A

incomplete development of forebrain and olfactory and optic nerve; Trisomy 13

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34
Q

cri du chat syndrome

A

deletion on chromosome 5; severe mental retardation, a cat like cry, microcephaly, slow growth, hypotonia, hypertelorism; with support affected individuals attain at level pf 5-6 year old

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35
Q

hypertelorism

A

extreme width between the eyes

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36
Q

Turner syndrome / monosomy X

A

nondisjunction in paternal meiosis; FEATURES: ovarian dysgenesis with hypoplasia or absence of germinal elements; shield like chest; congenital lymphedema (puffiness); RX: growth hormone, estrogen replacement

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37
Q

XXX syndrome

A

errors of maternal meiosis; low IQ; above average in statue; sex development usually normal

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38
Q

XXY Klinefelter syndrome

A

Barr body; FEATURES: IQ 85-90; poor psychosocial development; tall and this statue; hypogonadism and hypogenitalism, infertility; RX: testosterone

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39
Q

XYY syndrome

A

YY sperm; not dysmorphic but large teeth, prominent glabella and long ears; increased risk for behavioral problems; normal fertility

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40
Q

Mendelian Single-gene Disorders

A

autosomal dominant, autosomal recessive, x-linked dominant, x-linked recessive

41
Q

autosomal dominant disorder

A

only one copy of single abnormal gene is required; appears in every generation; 50% transmission chance;

42
Q

autosomal recessive disorder

A

trait characteristic appears only in siblings; two copies of gene are required; 25% ; consanguinity

43
Q

x-linked dominant disorders

A

affected males transmit the traits to all daughters not to sons; females are more likely to express the trait

44
Q

x-liked recessive disorders

A

almost exclusively in males; trait never transmitted directly from father to son;

45
Q

common mendelian single-gene diseases

A

Cystic Fibrosis, Congenital myotonic dystrophy, osteogenesis imperfecta, infantile polycystic kidney disease; vitamin D-resistant rickets

46
Q

Cystic Fibrosis defect

A

autosomal recessive; protein abnormality that is responsible for chloride transport that leads to thick mucous in lumens of pancreas, lungs, intestines, biliary tract, and appendix

47
Q

CF clinical features

A

meconium ileus, intestinal atresia, prolonged jaundice

48
Q

CF diagnosis and tests and RX

A

sweat test; RX: abx, bronchodilators, steroids, enzymes, fat soluble vitamins

49
Q

Congenital myotonic dystrophy defect

A

autosomal dominant; TYPE I: DMPK triplet repeat of cytosine-thymine-guanine; abnormal CNS

50
Q

congenital myotonic dystrophy clinical features

A

poor sucking, generalized hypotonia, facial diplegia, clubfoot, mental retardation

51
Q

congenital myotonic dystrophy DX and RX

A

muscle biopsy, serum creatinine kinase, electromyography; nerve conduction velocities are normal; no RX; failure to thrive (in infancy)

52
Q

osteogenesis imperfecta defect

A

autosomal dominant; I-VI types

53
Q

Osteogenesis imperfecta TYPES and features

A

I: postnatal bone fragility, blue sclerae; easy bruising
II: minimal calvarial mineralization, beaded ribs, compresses femurs
III: prenatal bone fractures, short stature, deafness
IV: normal to moderately short stature with significant bone deformity; normal sclerae,
V: moderate to severe tendency to fracture vertebrae and long bones, ligamentous laxity
VI: mild to moderate expression; postnatal onset at 4-18months;

54
Q

infantile polycystic kidney disease defect

A

autosomal recessive dx on prenatal US

55
Q

infantile polycystic kidney disease clinical features

A

potter facies: low-set ears, short nose, deep eye creases, micrognathia; clubfoot, large palpable bilateral renal masses; HPT; cardiac hypertrophy and CHF

56
Q

vitamin D- resistant rickets defect

A

x-linked dominant; features: growth retardation, childhood rickets, reduced serum phosphate

57
Q

vit D-resistant rickets RX

A

large dose of vit D and oral phosphate

58
Q

mosaicism

A

the condition in which there are two or more cell lines derived froma single zygote that are different genetically because of the postzygotic mutation or nondisjunction

59
Q

anticipation

A

the progressively earlier appearance and increased severity of a disease in successive generations

60
Q

imprinting

A

the differential expression of genetic material, at either a chromosomal or an allelic level, depending on whether the genetic material is inherited from male or female parent

61
Q

mitochondrial DNA

A

the DNA in the circular chromosome of the mitochondria, which is inherited from the mother

62
Q

multifactorial disorders examples

A

no distinctive pattern of inheritance: congenital heart defects; Cleft lip; Pyloric stenosis; Neural tube defect; clubfoot(talipes equinovarus); Hirschprung disease; Hypospadias

63
Q

Congenital Heart Defects

A

identified on prenatal US; heart murmur, cardiac failure, cyanosis; infant might sweat and become breathless at feedings

64
Q

cleft lip

A

feeding difficulties; surgery in several stages

65
Q

pyloric stenosis

A

severe feeding problems with nonbilious projectile vomiting; “olive” firm, non-tender and mobile hard pylorus; DX at 3-12 weeks; surgical correction

66
Q

Neural Tube Defects NTD

A

malformation of developing brain and spinal cord

67
Q

anencephaly

A

absence of forebrain and skull vault

68
Q

rachischisis

A

fatal condition in which NTD extends the length of the spine

69
Q

encephalocele

A

herniation of the meninges and brain through the skull

70
Q

spina bifida cystica

A

myelomeningocele and meningocele

71
Q

myelomeningocele

A

most common type of NTD; a cyst or sac containing portion of the spinal cord and meninges protrudes through an opening in the vertebrae

72
Q

meningocele

A

type of spina bifida cystica: sac containing only the meninges, the spinal cord is in proper position

73
Q

spina bifida occulta

A

the NTD is covered by a tuft of hair or layer of skin; one or two vertebrae are not properly fused; spinal cord and meninges are normal

74
Q

NTD DX

A

prenatal: increased maternal serum alpha-fetoprotein levels; increased acetylcholinesterase; high-resolution US

75
Q

NTD prevention

A

prenatal folic acid

76
Q

NTD nursing interventions

A

prevent infection: cover sac, keep infant prone, sterile plastic over anus; observe for hydrocephalus

77
Q

hydrocephalus S&S

A

rapid increase in head circumference; bulging fontanelles; shiny scalp; irritability

78
Q

clubfoot/talipes equinovarus clinical features

A

male to female 2:1; the affected foot is held in flexed (equinus) and inturned (varus) position

79
Q

Hirschsprung disease defect

A

failure to complete cranial to caudal migration of neural crest cells at 8-10 weeks gestation; absence of submucosal and myenteric ganglion cells

80
Q

Hirschsprung disease clinical features

A

DX in the first 2 years; neonate fail to pass mec in first 48 hours of life; lack of peristalsis result in chronic constipation; emesis bile stained with texture and smell of feces; bowel removal and temporary colostomy

81
Q

Hypospadias clinical features

A

the urethral orfice is situated on the ventral aspect of the penis at a site proximal to the normal opening; urethra shorter; need to delay circumcision

82
Q

teratogens

A

agents that produce or increase the incidence of congenital malformations

83
Q

teratogens examples

A

DRUGS: alcohol, smoking, ACE and ARBs; chemo agents, cocaine, warfarin, Accutane, phenytoin, streptomycin(hearing loss), tetracycline (dental staining), thalidomide, trimethadione, valproic acid …INFECTIONS: CMV, Rubella, HIV, Toxoplasmosis, Herpes simples, varicella-zoster; MATERNAL DISORDERS: insulin-dependent DM,

84
Q

FAS clinical features

A

microcephaly, short palpebral fissures, epicenthic folds, ptosis, small midface

85
Q

Newborn Screening diseases

A

PKU, Congenial hypothyroidism, galactosemia, congenital adrenal hyperplasia, biotinidase deficiency, sickle cell disease, maple syrup urine diseasel AUTOSOMAL RECESSIVE; most cause mental retardation

86
Q

prenatal testing

A

US, Nuchal scan, chorionic villus sampling, amniocentesis, maternal serum AFP, preimplantation genetic testing, percutaneous umbilical blood sampling;

87
Q

ULTRASONOGRAPHY

A

5 weeks; organ system and anatomical scan 16-20 weeks; no maternal or fetus risk

88
Q

NUCHAL SCAN

A

11-13 weeks; assesses the amount of fluid behind the neck of the fetus: nuchal translucency; no maternal or fetus risk

89
Q

Chorionic villus sampling

A

10-12 weeks; transcervical sampling of placental tissue; ; karyotype; detection of chromosomal abnormalities; maternal risk: vaginal bleeding, infection, acute AF leakage; fetal risk: miscarriage; might stop development of feet and hands if done too early

90
Q

Amniocentesis

A

14-18 weeks; insertion of a spinal needle into the uterus through the abdomen to aspirate 20-30 ml of AF; detection of chromosomal abnormalities; maternal risk: vaginal bleeding, AF leakage, infection; fetal risk: fetal loss, needle puncture, Rh sensitization, premature labor

91
Q

Maternal serum AFP

A

16-20 weeks; detect NTD and chromosomal abnormalities; mother blood test; no risk

92
Q

Human Genome Project

A

1990 launched; 2006 published

93
Q

mitosis

A

one division
two daughter cells per cycle
daughter cells are genetically identical to each other and to the parent cell
the # of chromosomes in the daughter cells is the same as the # in the parent cell
occurs in somatic cells
occurs through the life circle
growth, repair, asexual

94
Q

meiosis

A

two divisions
four daughter cells per circle
daughter cells are genetically different from each other and from the parent cell
the # of chromosomes in the daughter cell is half that of the parent cell
after sexual maturity
sexual reproduction

95
Q

transverse palmar crease

A

simian crease

96
Q

brushfield spots

A

white speckling of the iris

97
Q

dermatolyphics

A

ridged pattern of kin on fingers

98
Q

micrognathia

A

small jaw

99
Q

coloboma

A

cleft of the iris that looks like a key

MCN568 (11 decks)

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