T5M1,2 applied lecture

Question 1

define aneuploidy

Answer 1

abnormal number of certain chromosomes
- individuals have too many or too few of specific chromosomes

Question 2

define karyotype

Answer 2

organized display of the homologous pairs of chromosomes and sex chromosomes

Question 3

define amniocentesis

Answer 3

amniotic fluid withdrawn within 14-16 weeks of pregnancy and is tested for genetic disorders- fetal cells cultured for several weeks for sufficient numbers

Question 4

define chorionic villus sampling (CVS)

Answer 4

sample of chorionic villus tissue taken as early as week 8-10 in pregnancy and immediate tests are performed

Question 5

what phase is best to make karyotype

Answer 5

metaphase- want maximum contraction to view chromosomes

Question 6

how many chromosmes present in klinefelter syndrome?

Answer 6

47

Question 7

what is the sex chromosome for someone with klinefelter syndrome

Answer 7

xxy

Question 8

symptoms of klinefelter syndrome

Answer 8

-tall
-feminine body
-poor beard growth
-lose chest hair
-breast development
-small testes
-female pubic hair
-sterile
-normal intelligence

Question 9

define trisomy

Answer 9

individuals have 3 copies of a certain chromosome

Question 10

which chromosome is effected in down syndrome and how

Answer 10

trisomy in chromosome 21

Question 11

which chromosome is effected in patau syndrome and how

Answer 11

trisomy of chromosome 13

Question 12

symptoms of someone with patau syndrome

Answer 12

• mentally challenged
• cleft palate
• deaf
• malformed organs

Question 13

what chromosme is effected in edwards syndrome and how

Answer 13

trisomy of chromosome 18

Question 14

symptoms of edwards syndrome

Answer 14

• small newborns
• low set ears
• webbed neck
• receding chin
• organ malformations

Question 15

what is different about sex chromosome in females in turner syndrome

Answer 15

45 chromosomes, XO sex cells (only one x chromosome)
- monosomy

Question 16

symptoms of turner syndrome

Answer 16

-short
-webbed neck
-shield like chest
-internal sex organs not mature
-sterile

Question 17

what is triple x syndrome

Answer 17

xxx
usually normal phenotype and fertile

Question 18

what is jacob’s syndrome

Answer 18

xyy
normal male
very tall

Question 19

ghulam mufti’s research advantage

Answer 19

using genetic testing for finding optimal targeted treatments for cancer patients

Question 20

what is mendel’s second law

Answer 20

two genes sort independently during gamete formation

Question 21

what are linked genes

Answer 21

inherited together and dont segregate independently

Question 22

what is GWAS

Answer 22

genome wide association studies
- looks across entire SNP linkage map for association between phenotype and mapped SNP

Question 23

what is a blood type

Answer 23

classification of blood based on presence or absence of specific inherited cell service proteins or enzymes that catalyse synthesis of cell surface glycolipids

Question 24

what do A and B alleles code for

Answer 24

glycosyltransferace enzyme

Question 25

what does O allele code for

Answer 25

inactive glycosyltransferase enzyme

Question 26

what is HIV

Answer 26

human immunodeficiency virus- invades T cells by interacting with two proteins on cell surface

Question 27

what proteins are invaded during HIV

Answer 27

CD4 receptor and CCR5 co receptor

Question 28

why are some people immune to HIV

Answer 28

mutation in CCR5 gene- 32 base pair deletion
- stop codon terminates translation early