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Flashcards in Genetics Deck (28):
1

blood type or eye color is an example of

phenotype

2

The total hereditary info present in an individual: the pair of gees for each characteristic is known as

genotype

3

what is a Mendelian disorder?

single-gene disorder: a mutation in a single locus or gene, in one or both members of a gene pair

4

In autosomal dominant inheritance, how many mutated copies of a gene in each cell need for a person to be affected?

one

5

how many generations to autosomal dominant inheritance occur?

every generation

6

name two autosomal dominant inheritance disorders

Huntingtons disease and neurofibromatosis type 1

7

name 3 autosomal RECESSIVE inheritance abmormalities

sickle cell anemia, cystic fibrosis, thalassemia

8

name an x lined dominant inheritance

fragile x syndrome

9

how many copies of genes are present in each cell of an affected person in autosomal recessive inheritance?

two

10

how is autosomal recessive inheritance passed on through the generation?

not typically seen in every generation

11

do autosomal recessive inheritance have parents that are carriers or have the disease?

parents are the carriers and are unaffected and each carry a single mutated gene

12

x lined dominant inheritance- more males or females?

females more frequently

13

x linked dominant inheritance-can father transfer x lined dominant traits to son?

no

14

x linked RECESSIVE INHERITANCE-who is affected more-men or women?

males more frequently females

15

example of x linked recessive

hemophelia

16

example of x lined dominant

fragile x syndrome

17

what are Y linked diseases related to?

sexual determination
cellular functions
bone development

18

name an autosomal recessive disease that results from absence of an essential enzyme causing incomplete metabolism of proteins, fats or sugars

PKU phenylketonia-inborn error of metabolism

19

what is autosome

any chromosone other than sex (X or Y chromosomes)

20

what is a genome

complete set of chromosomes or the entire genetic information present in a cell

21

what is euploidy

state of complete sets of chromosomes

22

wat is aneuploidy

state of having an abnormal number of chromosomes

23

what is polyploidy

abnormal number of haploid chromosome complements

24

what is deletion

portion of a chromosome that is missing

25

what is ring chromosome

when deletions occur at both ends of the chromosome, the ends may untie to form a ring

26

what is isochromosomes

composed of either two short arms o two long arms of the chromosome fused together

27

what is karyotyping

A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number.

28

why is parental karyotyping used

may be indicated in recurrent pregnancy losses