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Flashcards in W7 Genetic Tools Deck (26):
1

Polymorphic chromosomal markers

any mark (usually sequence) that helps us determine whether or not an individual carries a disease gene

2

Most genetic polymorphisms are pathological/benign

benign

3

Biomarkers

DNA sequences usually found with diseased gene

 

are not genetic mutation themselves

4

Restriction fragment length polymorphism

biomarker acts as restriction endonuclease recognition site

5

This type of modifiction may both endonuclease binding

methylation

6

Variable number of tandem repeats (VNTR)

PCR analysis

 

size of fragments can tell where chromosome came from/act as biomarker

7

Haplotypes

Haploid genotypes

 

haplotype blocks are a large set of SNPs that are found in certain populations

 

haplotype maps are constructed from populations

 

haplogroups are used to trace ancestry

8

Prader-Willi syndrome

Maternally imprinted gene on chromosome 17

 

Found next to Angelman syndrome gene

9

Angelman syndrome

paternally imprinted gene on chromosome 17

 

next to Prader-Willi syndrome gene

10

Clinical cytogenetics

study of chromosome structure

11

Karyotyping

looking at number and mophological features of set of chromosomes

12

Angelman Syndrome

Paternally imprinted

 

Maternal deletion-->Angelman

13

Prader-Willi Syndrome

Maternally imprinted

 

Paternal deletion-->Prader-Willi

14

How can the Prader-Willi gene be deleted without producing the PW phenotype?

PW is maternally imprinted, so if the maternal gene (imprinted) is deleted, it will not make a phenotypic difference

15

What does the Prader-Willi gene encode?

long noncoding RNA

16

What is the risk of trisomy 21 reoccurance?

8x greater (1/800 --> 1/100)

17

Single X

Turner syndrome (females)

18

Male extra X

Klinefelter Syndrome

19

Amniocentesis

amniotic fluid removed transabdominally

20

Cordocentesis

from umbilical cord

21

Chorionic villus sampling

4-5 weeks before amniocentesis is possible

22

Trisomy 21 serum values (trimester 1)

Nuchal translucency

PAPP-A

Free β-hCG

Nuchal translucency: high

PAPP-A: low

Free β-hCG: high

23

Trisomy 21 serum values (trimester 1)

Nuchal translucency

PAPP-A

Free β-hCG

Free β-hCG: high

Inhibin A: high

24

Neural Tube Defect Test

Second trimester

High AFP (not trisomy 21)

25

How to detect Duchene's Muscular Dystrophy carriers

serum creatine kinase (elevated)

26