LECTURE I

Question 1

Traditional view of disease?

Focus? what does this mean

Answer 1

body is machine
disease=broken machine
medicine=fixes broken machine

disease, so patient develops disease before consulting physician

Question 2

Genetic view of disease?

Focus?why is this important

Answer 2

all disease is inevitable
prevention
mgmt for most plausible cause
care vs cure

individual, so why this disease, person, time of onset

Question 3

what is considered in disease onset of an individual?

Answer 3

chromosomal
single gene(mendelian)
multifactorial

Question 4

malformed meiosis gametes can result in?

Answer 4

Trisomy via non-disjunction

47, XXY Syndrome, Karyotype, Jacobs Syndrome

Question 5

what is Lyons hypothesis? can result in?

Answer 5

dosage compensation by random inactivation of one X chromosome in all female cells

lines of Blaschko

Question 6

what modulates chromosomal x-inactivation?

Answer 6

XIST RNA epigenetically modulates this

Question 7

what x-linked recessive genetic disease is characterized by abnormal development of structures like nails, hair, teeth, sweat glands

Answer 7

Anhidrotic ectodermal dysplasia

Question 8

describe epigenetics? its influence?

Answer 8

imprinting where genes are turned off in a maternal or paternal specific pattern

most imprinted genes affect prenatal and neonatal growth
most imprinted genes do not encode proteins
imprinting may be incomplete
imprinting occurs only during specific time
imprinting can be tissue specific

Question 9

how do epigenetic modifications happen?

Answer 9

methylation by DNA methyltransferases (DNMTs)

Question 10

what is hyatidiform?

Answer 10

effect of epigenetic modification where there is a lack of maternal genome or a 2:1 paternal:maternal genome

Question 11

this is a group of genes inherited from a single parent?

Answer 11

haplogroup

Question 12

what does SNP analysis determine?

Answer 12

causes of disease
correlation with disease prognosis
genetic marker
characterize individuals
characterize populations
applications in anthropology like tracing of migrations

Question 13

reproductive genetic disease example?

Answer 13

Klinefelter’s Syndrome (XXY) 1:500

the more X’s, the more severe the symptoms and infertility not detected until infertility becomes an issue
gynecomastia-breast enlargement
intellectual disability, distinct facial features, poo coordination, and problems with speech

Question 14

structural genetic disease example?

Answer 14

Williams syndrome

very similar to a normal appearance, metabolic disorders, health issues

Question 15

structural signaling genetic disease example?

Answer 15

Diprosopus (craniofacial duplication)

Holoprosencephaly 1:16000-60000

Question 16

incomplete separation genetic disease example?

Answer 16

conjoined twins

Question 17

incomplete leg development genetic disease example?

Answer 17

Amelia, cranial/caudal asymmetry

Mobius Syndrome, left/right asymmetry

Question 18

incomplete palate, eye and hair growth genetic disease example?

Answer 18

cleft lip 1:1000
Colobama 1:1000-15000
Hypertrichosis (extreme)