Genetics 6 Flashcards

1
Q

pedigree analysis

A

allows geneticist the opportunity to visually examine multiple generations of the same family to look for a pattern of inheritance (X-linked dominant, X-linked recessive, Y-linked, autosomal dominant, autosomal recessive)

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2
Q

autosomal dominant pedigree

A

a person never gets this disorder unless a parent had the disorder (barring spontaneous mutations)

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3
Q

autosomal recessive pedigree

A

parents may be heterozygotes of the disorder and therefor not demonstrate the disorder; if the disorder is not lethal then two afflicted individuals would have an afflicted offspring

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4
Q

sex linked (X-chromosome) dominant pedigree

A

dominant allele is passed from father to daughter, therfore all the daughters and none of the sons of an afflicted father will have the disorder; if the mother is afflicted half of her children (regardless of gender) will be afflicted

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5
Q

sex linked (X-chromosome) recessive pedigree

A

an afflicted father (with normal spouse) passes his x chromosome to his daughters making them carriers, sons will not be afflicted; a carrier mother (with normal spouse) will pass the bad x to half of her sons and half of her daughters, the sons will be afflicted and daughters are carriers; an afflicted mother will have all afflicted sons and all carrier daughters

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6
Q

Y-linked pedigrees

A

passed from father to sona dn expressed in all the males

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7
Q

autosomal recessive trait

A

usually appears in both sexes equally; skips generations; afflicted offspring born to unaffected parents; heterozygous parents have 1/4 children affected; appears more frequently among children of consanguine marriages

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8
Q

autosomal dominant trait

A

usually appears in both sexes equally; both sexes transmit to their offspring; does not skip generations; affect offspring must have an affected parent; one heterozygous parent and one unaffected parent have half offspring affected; unaffected parents do not transmit the trait

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9
Q

x-linked recessive trait

A

usually more males than females affected; affected sons usually born to unaffected mothers; skips generations; half a carrier mother’s sons are affected; never passed father to son; all daughters of affected fathers are carriers

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10
Q

X-linked dominant trait

A

both males and females affected, more often females; does not skip generations; affected fathers will pass the trait to all daughters; affected mothers will pass trait to half of sons and half of daughters

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11
Q

Y-linked trait

A

only males affected; father to son; does not skip generations

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12
Q

genetic counseling

A

talk to individuals about probability of having a special child; but never input their personal opinion on whether to have a child

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13
Q

reasons for genetic counseling

A

known genetic disease in family; given birth to child with defect or genetic disease; child or close relative is intellectually disabled; older woman becomes or tries to be pregnant; husband and wife closely related; difficulties concieving; worry of environmental exposure; prospective parents known carriers

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14
Q

prenatal genetic testing

A

amniocentesis, chorionic villus sampling (CVS)

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15
Q

postnatal genetic testing

A

biochemical tests or genetic screening

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