Human Genetics: Diagnostic tests and methods

Question 1

Total number chromosomes in 1 trisomy

Answer 1

47

Question 2

Total number chromosomes in 1 monosomy

Answer 2

45

Question 3

Total number of chromosomes in tetraploidy

Answer 3

92

Question 4

TRUE of sex chromosomes

a. differ between sexes
b. own patterns of inheritance
c. involved in primary sex determination
d. subject to different forms of gene regulation
e. NOTA
f. AOTA

Answer 4

F

Question 5

47, XXY

Answer 5

Klinefelter

Question 6

TRUE of single gene disorders EXCEPT

a. Disorder due to one or more mutant alleles at a single locus
b. Single critical error in the genetic information
c. Usually Exhibit non-Mendelian Genetics
d. Many are rare but collectively would have a significant impact

Answer 6

C

Question 7

Single Gene Defect EXCEPT

a. Achondroplasia
b. Duchenne Muscular Dsytrophy
c. Neural Tube Defects
d. Sickle Cell Anemia

Answer 7

C

Question 8

The following statement is FALSE

a. Multifactorial genetic diseases could be polygenic and affected by environment at the same time
b. All disorders that affect more than 1 family member is genetic
c. All genetic disorders will affect more than 1 family member
d. A and B.
e. B and C
f. A and C

Answer 8

E

Question 9

What are indications of urgent cytogenetic tests (2)

Answer 9

ambiguous genitalia, lethal trisomy

Question 10

T/F

Ideally, results of cytogenetics should be released to the patient

Answer 10

F; should be given to the doctor

Question 11

T/F there could be other causes of trisomy 21 aside from non-disjunction

Answer 11

T; translocation

Question 12

The following tests for:
Southern Blot
Northern Blot
Western Blot

Answer 12

SNW DRP
DNA
RNA
Protein

Question 13

a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome)

Answer 13

Comparative Genomic Hybridization

Question 14

TRUE of SNPs EXCEPT

a. difference in one nucleotide
b. most cause disease
c. can be used to track the inheritance of disease
d. NOTA

Answer 14

B

Question 15

study that look at hundreds or thousands of SNPs at the same time

Answer 15

Genome wide association studies

Question 16

technique for sequencing all the protein-coding genes ina genome;

Answer 16

Whole exome Sequence

Question 17

True of Biochemical Genetics Investigations EXCEPT

a. Initiated to predict risk for disease
b. techniques need to cover a wide range of possible disorders
c. choice of appropriate line of investigation and interpretation of results is dependent on clinical information reaching the lab

Answer 17

A; intiated as a result of clinical suspicion