Module 10.1 : Hereditary Flashcards Preview

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Flashcards in Module 10.1 : Hereditary Deck (26)
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1

genotype

- your DNA resulting in your genetic make up

2

phenotype

- the physical representation of the gene
- what you look like

3

allele

- variants of a particular gene due to the changes in the gene sequence
- 2 basic characteristics
+ dominant or recessive

4

dominant allele

- affects the phenotype when present in one copy

5

recessive allele

- must be present in 2 copies to be expressed

6

pungent square

- map of statistical outcomes or risks of inheriting a disease or condition
- alleles from both parents
- dominant is BIG LETTER
- recessive is little letter

7

chromosomes

- humans have 23 pairs of chromosomes
- or 46 singular chromosomes
+ 2 sex chromones
+ 44 autosomes
- not sex hormones

8

meiosis

- entail two divisions of the genetic material
- produces 4 haploid cells each carrying a new assortment of genes and chromosomes

9

mode of inheritance

- depends on whether allele is dominant or recessive
- does the gene that determines that trait appear on a sex chromosome or an autosome
+ autosomal dominant
+ autosomal recessive
+ sex linked dominant
+ sex linked recessive

10

genetic variability

- one person carries more than 8 million possible combinations
- possibility of 70 trillion genetically unique individuals

11

homozygous

- an individual with 2 identical alleles for a gene
+ CC cc

12

heterozygous

- an individual with 2 different alleles for the gene
+ Cc

13

recessive

- recessive disorders tend to be more severe and produce symptoms at much earlier age

14

dominant disorders

- with early presentations are not as common because these people are to sick to reproduce so allele vanishes from the population
- do not present to until adulthood remain in population because they can reproduce

15

tourettes syndrome

- autosomal dominant
- many different symptoms

16

cystic fibrosis

- autosomal recessive

17

marfan syndrome

- autosomal dominant
- defect in an elastic connective tissue protein called fibrillin
- long limbs
- pectus excavatum caved in chest
- aortic dissection
- lens dislocation

18

co dominant

- some alleles can be co dominant
+ AB blood type
- antigen on surface of RBC

19

uniparental disomy

- two copies of an allele from one parent
- it was discovered that a girl expressed cystic fibrosis even though mother was only carrier of recessive allele
- recieved both copies of recessive gene from mom

20

x linked recessive

- a male inherits his Y chromosome from his father and his x chromosome from his mother
- femal inherits X chromosome from each parent so doesnt usually present with that

21

x linked recessive traits

- x linked traits never passed from father to son
- father would pass Y not an X to produce son
- hemophilia A is an example of X linked trait
+ daughters carry it but males present it

22

klinefelters syndrome

- males with and extra X chromosome passed on from their mother
- underdeveloped sexually - rudimentary tests and prostate
- long arms and legs, large hands and feet
- no pubic hair or facial hair may develop breast tissue
- 1 in 500-1000 births
- most men do not know until fertility is problem
- 47XXY

23

Jacobs syndrome

- has been associated with violence or aggressive behaviour
- some inmates in jail however many guys with normal lives have XYY
- XYY

24

variations of genes

- deletion - missing
- duplication - extra
- translocation - gen moved to another chromosome
- inversion - genes switched position on the chromosome arm

25

Down syndrome

- most of the cases are due to maternal nondisjunction
+ nondisjunction occurs when the chromosomes do not separate in meiosis
+ (+1) or (-1) chromosomes
- increases maternal age increases the incidence of nondisjunction

26

Down syndrome translocation

- individual with a translocation may not show signs - normal
- individual has an increase risk of having children with down syndrome
- T21 usually a random event and not inherited in the classic mosaic form
+ some normal some abnormal