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Flashcards in Ch 10 - Genetics Deck (45)
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1

the study of individual genes and their effect on seemingly rare, single gene disorders

Genetics

2

the study of all genes in the human genome together. This includes their interactions with each other and the environment
- genetic material across ethnic, culture, etc

genomics

3

What are the implications of shifting to a genomics focus?

cancer research → target drug and tx measurements to know how to they respond across humanity

4

Human genome project findings

Human beings are 99.9% equal on the DNA level

Humans do not have more genes than other species. The use of different proteins enables higher functioning at a more differentiated level than in other species.

5

What is the most efficient, cost effective way to be able to predict genetic disorders?

What does it include?

Accurate family history

Should include history of diseases, as well as ethnic and cultural background of all blood related relatives for 3 generations

6

Tests for down syndrome & spina bifuda
Tested at 16 weeks
Has a high false positive rate.

MSAFP 4

7

US test for downs syndrome, tests fat fold in the back of the neck.

noninvasive.

Nuchal translucency

8

What are some tests you might consider for someone who is black or jewish?

sickle cell - blacks

Tay Sachs - jews

9

What are some tests you might consider for disorders that are specific to family history? (hint: genetic disorders)

trisomy's

cystic fibrosis (autosomal recessive gene - both parents must have for children to be affected)

Huntington’s

10

The different ways a test can be done

- Blood
- US
- IVF
- CVS - chorionic villus sampling - sample of amniotic tissue
- Amniotic fluid (toward end of 2nd trimester, but w/in enough time to terminate before viability)

11

Screening for genetic disorders and other inborn errors of metabolism while in the hospital

Usually done between 24-48 hrs of birth.

~30 disorders per screening

PKU - phenylketonuria

If you have too much phenolyline, it may result in neurologic/cognitive delays, but is manageable if caught early

12

BRCA1 & BRCA2

breast cancer screen

13

How many chromosomes do both sperm & egg contribute each?

23

22 autosomes + 1 sex chromosome

14

contributes most of the traits & characteristics

autosomes

15

Which sex chromosome determines the sex of the baby?

father's

16

chromosomal disorder caused by missing/incomplete X chromosome.

happens in females

causes short stature, delayed puberty, infertility, .... etc

many will miscarry spontaneously

turners (X-linked) - also called gonadal dysgenesis

Most will lead normal lives

17

chromosomal disorder caused by a male w/ an extra X chromosome

causes infertility, small testicles, mild intellectual disability, gynecomastia

Klinefelter syndrome (Y linked)

Most will lead normal lives

18

What is the major cause of reproductive loss?

chromosomal anomalies

19

What % of pregnancies w/ chromosomal anomalies result in spontaneous abortion?
When do they generally occur?

60%
Generally before the first 12 weeks of pregnancy

20

an abnormal number of chromosomes within a cell

is a type of chromosomes abnormality

An extra or missing chromosome is a common cause of genetic disorders.

Aneuploidy

21

the condition in which a normally diploid cell or organism acquires one or more additional sets of chromosomes.

has 3 or more times the haploid chromosome number

polyploidy

22

Most common type of chromosomal abnormality, responsible for most genetic cases of mental retardation

Aneuploidy

23

the result of a union between normal gamete and one with an EXTRA chromosome

trisomy

24

the result of a union between normal gamete and one MISSING a chromosome

monosomy

25

The most common autosomal aneuploid conditions involve ...

trisomies

26

When do most trisomies occur?

oogenesis

27

What factor in the woman will increase the risk of trisomies?

advanced maternal age. More risk the older the mom is.

28

trisomy 21

down syndrome

29

trisomy 13

patau syndrome

30

trisomy 18

edward's syndrome