multiple choice Flashcards by Careene Cayana

define recessive genetic disorders.

when the individual is homozygous recessive for the trait.

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what is the cause of cystic fibrosis?

-gene that code for a membrane’s protein is defective.
-caused by recessive allel.

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what does cystic fibrosis affect?

-excessive mucus production.
-digestive and respiratory failure.

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what happens to chloride ions of a person with cystic fibrosis? what happens to the mucus if there is no sufficient chloride ions?

-not absorbed but excreted in sweat
-thick mucus is secreted

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what is the cause of albinism?

caused by multiple genes, resulting in the absence of skin pigment melanin in hair and eyes.

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characteristics of person with albinism.

-white hair
-very plae skin
-pink pupils

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what is the cause of tay-sachs disease?

caused by the absence of the enzymes responsible for breaking down fatty acids.

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what do you call the enzymes that are responsible for breaking down fatty acids?

gangliosides.

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what is galactosemia?

recessive genetic disorder characterized by the inability of the body to digest galactose.

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what are the other affect of albinism?

-skin suspectible for UV damage.
-vision problems

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what are the affects of galactosemia?

-mental disabilities
-enlarged liver
-kidney failure

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what are the affects of tay-sachs disease?

-buildup of fatty deposits in the brain
-mental disabilities

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what are the cure/treatment for cystic fibrosis?

-no cure
-daily cleaning of mucus from the lungs
-mucus-thinning drugs
-pancreatic enzyme supplements

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what are the cure/treatment for albinism?

-no cure
-protect skin from the sun and other environmental factors
-visual rehabilitation

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what are the cure/treatment for galactosemia?

-no cure
-restriction of lactose/galactose in the diet

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what are the cure/treatment for tay-sachs disease?

-no cure
-death by age 5

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what are the two dominant genetic disorders?

-huntington’s disease
-achondroplasia

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what is the cause of huntington’s diseae?

gene affecting neurological function is defective.

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what is the cause of achondroplasia?

-gene that affects bone growth is abnormal.

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what are the affects of huntington’s disease?

-decline of mental and neurological functions
-ability to move deteriorates.

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what are the affect of achondroplasia?

-short arms and legs
-large head

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what are the cure/treatment for the two dominant genetic disorders?

-both of them does not have cure nor treatment

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define pedigrees?

diagram that traces the inheritance of a particular trait through several generations.

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define incomplete dominance.

heterozygous phenotype is an intermediate phenotype between the two homozygous phenotypes.

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in incomplete dominance, there are no dominant or recessive alleles. Uppercase letters are not used to represent alleles. Instead, it is used in..?

superscripts

define codominance.

both alleles are expressed in the heterozygous condition.

what disease is an example of codominance?

sickle-cell disease

what is sickle-cell disease?

-changes in hemoglobin cause red blood cells to change to a sickle-shaped cells

define multiple alleles.

blood groups in humans (ABO blood groups have three forms of alleles)

in coat color of rabbits what is demonstrated in their heirarchy of dominance.

multiple alleles.

what are the four alleles code for coat color?

C>C^ch>c^h>c

what is epistasis?

variety of result of one allele hiding the effects of another allele.

what is sex determination?

sex chromosomes determine an individual's gender.

what chromosome carries a variety of genes that are necessary for the development of both females and males?

X chromosome

one chromosome is inactived in each cell and that inactivated chromosome is visible in stained cells as a barr body.

X chromosome in females.

Y chromosome mainly has genes that relate to the development of what gender characteristics?

male

define polygenic traits.

-it arise from the interaction of multiple pairs of genes.

how many genes are controlling the traits?

two or more

an additive effect of two or more gene loci on a what?

single phenotypic character.

what are the environmental influences of an organism's phenotype?

-diet and exercise -sunlight and water -temperature

gene expression can be influenced by?

-the activity of other genes -the environment both inside (hormone changes associated with adulthood) and outside (enable organism to adjust to environmental changes) the organism

in twin studies, traits that appear frequently in identical twins are atleast partially controlled by?

heredity

in twin studies, traits expressed differently in identical twins are strongly influenced by?

environment

what is karyotype/karyotyping?

-micrograph in which the paurs of homologous chromosomes are arranged in decreasing size.

images of chromosomes stained during?

metaphase

chromosomes are arranged decreasing sized to produce?

micrograph

what is telomeres?

serves a protective function for the structure of the chromosome

telomere caps are consist of?

DNA associated with proteins

what is non-disjunction?

cell division in which sister chromatids failed to separate.

what is the chromosome theory of inheritance?

genes (material of inheritance) are carried by the chromosomes.

what is linked genes?

genes that are on the same chromosomes

the only way that genes on the same chromosomes do not get inherited together is because of...

gene recombination during crossing-over (prophase I) of meiosis

what is genetic recombination??

shuffling of genes into new combinations by crossing over

what is recombinant?

an organism or chromosome with a recombined set of genes

what is genetic map?

an ordered list of genes along a particular chromosome

what is genetic mapping?

locating genes on chromosomes (locate these genes by studying recombination)

how many autosomes we have?

22 pairs of autosomes (44)

what is sex chromosomes?

sex determining chromosomes

what is sex-linked genes?

genes found on the X or Y chromosome

what is sex-linked traits?

traits that are determined by the sex chromosomes

the genes for sex linked traits are carried on..

the X chromosome

any gene on the X chromosome of a male is expressed in the...

phenotype of the offspring

in males, where does the X chromosome comes from?

their mother

what is colour blindness?

sex-linked disorder; inability to distinguish between certain colors.

what chromosome is the genes for color vision is from?

X chromosome

red-green color blindness results from...

recessive gene only found in the X chromosome.

what sex-linked disorder is where males cannot be a carrier even he is diagnosed or not?

Hemophilia

what is hemophilia?

when blood does not clot properly that causes excessive bleeding even after a minor injury

hemophilia is also called as?

royal's disease

hemophilia is caused by?

a recessive gene located on the X chromosome

females inherit X-linked traits from?

both parents

define autosomal traits.

traits that are expressed in only one sex

define sex-limited genes.

carried by both male and female but are activated by the hormones of one sex.

sex-limited traits caused the..

development of male and female sexual structures and characteristics.

traits are expressed in both sexes, but they are expressed differently.

sex-influenced traits

this chromosomal disorder is the result of an extra chromosome 21.

down syndrome (trisomy 21)

characteristics of person with down syndrome

-almond-shaped eyes -enlarged tongues -bodies are short and stocky -muscle development and coordination are often poor -prone to heart defects

common cause of trisomy 21?

age of the mother

this chromosomal disorder is also a trisomy condition and extra X chromosome in male.

Klinefelter syndrome (XXY)

charactristics of person with Klinefelter syndrome

-underdeveloped testes, usually sterile, fail to develop normal characteristics. -may cause feminine characteristics (breasts, body shape) -long arms and legs, and below average intelligence

frequency correlation of Klinefelter syndrome

1/2000 live births

this chromosomal disorder is when only one X chromosome and no other sex chromosome (45 chromosomes)

Turner syndrome (monoosomy x)

turner syndrome is classified as...

female

characteristics of person with turner syndrome.

-fail to develop sexually and are sterile (no functional ovaries) -females (XO) have normal intelligence, short and stature and webs of skin from neck and shoulders

how many people are diagnosed with turner's in live birth.

1/5000

this disorders are when a lethal gene causes death

genetic syndrome

this genetic disorder is common in mostly african-american

sickle cell anemia

sickle cell anemia occurs when...

oxygen supply of red blood cells is low (blood cannot carry enough oxygen)

what is the treatment for sickle cell anemia?

chemicals for red blood cells to return to normal shape

people with ______ traits are carriers.

heterozygous

galactosemia is caused by

recessive allele

PKU (PHENYLKETENURIA) is caused by...

recessive allele

what does PKU builds up and causes?

brain damage

how is PKU detected and prevented?

detected through urine test and can be prevented by special diet early in life

tay-sachs is common in

central european ancestry

death in tay-sachs is usually by age?

2 or 3

cystic fibrosis is common in..

caucasians

when cystic fibrosis is untreated, the person is most likely to die at age??

5 or before age 5

in what age does the symptoms for huntington's disease appear?

the death of a person diagnosed with huntington's is within how many years after diagnosis?

huntington's disease is caused by..

gene on chromosome 4

what is lethal dominant alleles?

often the result of new mutations in a gene of the gamete that subsequently kill the developing offspring.

what is lethal recessive alleles?

passed from generation to generation by the reproduction of heterozygous carriers who have normal phenotypes.

what are the causes of mutations?

chemicals and radiation

what is mutagens?

substances that cause mutations

what is ultrasonography?

-sound waves echo from various tissues -reflected sound waves create video image of fetus -fetal position and anatomy are seen

what is amniocentesis?

-fluid analyzed for the presence/absence of certain chemicals to detect genetic diseases -chromosomes mutations detected by creating karyotypes of chromosomes

what are the ethical issues surrounding amniocentesis?

-risk of injuring fetus -causes miscarriage,send into false labor diagnosis of diseases or disorders might have some parents considering abortion

what is fetoscopy?

direct observation of the fetus surrounding tissues

what is inserted through a small incision in mother's abdomen?

endoscope