M1

Question 1

study of human biological variation and its relationship to health and disease.

Answer 1

Medical genetics

Question 2

involved with the diagnosis and management of genetic disorders affecting individuals and their families.

Answer 2

Clinical genetics

Question 3

Pattern of inheritance described by ____was recognized in human disorders.

Answer 3

Mendel

Question 4

recognized the inheritance pattern of Alkaptonuria
(autosomal recessive); “inborn error of metabolism”.

Answer 4

ARCHIBALD GARROD

Question 5

population genetics; basis for calculating carrier frequencies for autosomal recessive disorders.

Answer 5

HARDY-WEINBERG PRINCIPLE

Question 6

discovered by Meischer in
1867

Answer 6

DNA (“nuclein”)

Question 7

First illustration of human chromosomes

Answer 7

Walter Flemming

Question 8

determined the structure of DNA in 1953

Answer 8

Watson and Crick

Question 9

described sickle cell anemia as AR trait

Answer 9

James V Neel

Question 10

• identified sickle cell anemia as “molecular” disease

Answer 10

Linus Pauling

Question 11

estimated the mutation rate in humans based on an analysis of seven human diseases

Answer 11

JBS Haldane

Question 12

discovery of cytologically visible structure in the nucleus of neurons of female cats, but not in males

Answer 12

Barr body (X-chromatin)

Question 13

published the first textbook in human genetics - Principles of Human Genetics

Answer 13

Curt Stern

Question 14

first textbook on medical
genetics “Introduction to Medical
Genetics” in 1940 in Britain

Answer 14

Fraser Roberts

Question 15

The term “______” was introduced in
1987 - relates to genes, and molecules regulating their functions and nuclear structures

Answer 15

genomics

Question 16

Principles of Heredity; described several human pedigrees with autosomal dominant, recessive, and Xlinked inheritance

Answer 16

William Bateson

Question 17

recognized the genetic
individuality of man; Inborn Factors of Diseases (monograph)

Answer 17

Archibald Garrod

Question 18

recognized the individuality of chromosomes; related changes in chromosomes to the causes of cancer

Answer 18

Theodor Boveri

Question 19

proposed the “One
Gene-One Enzyme” hypothesis in 1941

Answer 19

• George W Beadle

Question 20

• numerous though individually rare
• clear pattern of inheritance
• high risk to relatives

Answer 20

Single gene (mendelian)

Question 21

• common disorders
• no clear pattern of inheritance
• low or moderate risk to relatives

Answer 21

multifactorial

Question 22

• mostly rare
• no clear pattern of inheritance
• usually low risk to relatives

Answer 22

chromosomal

Question 23

• accounts for mosaicism
• cause of neoplasia

Answer 23

somatic mutation

Question 24

▪ Establish an accurate diagnosis
▪ Provide information about
prognosis and follow up, risk of
developing or transmitting the
disorder, ways to prevent or
ameliorate the disorder

Answer 24

ROLES OF CLINICAL
GENETICISTS

Question 25

Due to “Founder effect” or a common ancestor,
consanguinity is most commonly associated with inborn
errors of metabolism, most of which are autosomal
recessive.

Answer 25

CONSANGUINITY

Question 26

increases the incidence of multifactorial
disorders such as diabetes, cardiovascular disorders,
obesity, and certain types of cancer.

Answer 26

Consanguinity

Question 27

growing up in close proximity to a
child

Answer 27

Westermarck effect –