T5M1,2 applied lecture Flashcards
define aneuploidy
abnormal number of certain chromosomes
- individuals have too many or too few of specific chromosomes
define karyotype
organized display of the homologous pairs of chromosomes and sex chromosomes
define amniocentesis
amniotic fluid withdrawn within 14-16 weeks of pregnancy and is tested for genetic disorders- fetal cells cultured for several weeks for sufficient numbers
define chorionic villus sampling (CVS)
sample of chorionic villus tissue taken as early as week 8-10 in pregnancy and immediate tests are performed
what phase is best to make karyotype
metaphase- want maximum contraction to view chromosomes
how many chromosmes present in klinefelter syndrome?
47
what is the sex chromosome for someone with klinefelter syndrome
xxy
symptoms of klinefelter syndrome
-tall
-feminine body
-poor beard growth
-lose chest hair
-breast development
-small testes
-female pubic hair
-sterile
-normal intelligence
define trisomy
individuals have 3 copies of a certain chromosome
which chromosome is effected in down syndrome and how
trisomy in chromosome 21
which chromosome is effected in patau syndrome and how
trisomy of chromosome 13
symptoms of someone with patau syndrome
- mentally challenged
- cleft palate
- deaf
- malformed organs
what chromosme is effected in edwards syndrome and how
trisomy of chromosome 18
symptoms of edwards syndrome
- small newborns
- low set ears
- webbed neck
- receding chin
- organ malformations
what is different about sex chromosome in females in turner syndrome
45 chromosomes, XO sex cells (only one x chromosome)
- monosomy
symptoms of turner syndrome
-short
-webbed neck
-shield like chest
-internal sex organs not mature
-sterile
what is triple x syndrome
xxx
usually normal phenotype and fertile
what is jacob’s syndrome
xyy
normal male
very tall
ghulam mufti’s research advantage
using genetic testing for finding optimal targeted treatments for cancer patients
what is mendel’s second law
two genes sort independently during gamete formation
what are linked genes
inherited together and dont segregate independently
what is GWAS
genome wide association studies
- looks across entire SNP linkage map for association between phenotype and mapped SNP
what is a blood type
classification of blood based on presence or absence of specific inherited cell service proteins or enzymes that catalyse synthesis of cell surface glycolipids
what do A and B alleles code for
glycosyltransferace enzyme
what does O allele code for
inactive glycosyltransferase enzyme
what is HIV
human immunodeficiency virus- invades T cells by interacting with two proteins on cell surface
what proteins are invaded during HIV
CD4 receptor and CCR5 co receptor
why are some people immune to HIV
mutation in CCR5 gene- 32 base pair deletion
- stop codon terminates translation early
