Exam (elaborations)
principles of human geneticsQuestions and and answers.
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- Human Genetics And Personalized Medicine
principles of human geneticsQuestions and and answers.
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principles of human genetics1. personal genome project PGP, or personalized medicine, uses (what type of sequencing
technology) followed (by what type of genetic testing)? - correct answer-- next generation
DNA sequencing
- direct to consumer (DTC)
10. Using Hardy Weinberg law, identify carrier frequency in autosomal recessive trait
(assuming two alleles with frequency "p" and "q"). - correct answer-
2. How DNA is packaged into chromosomes (Identify two structures) in humans? - correct
answer-DNA --> nucleosome --> solenoid --> chromosome
3. aIdentify the most common type of genetic variation in human genome.
b. Identify the category to which microdeletion belongs. - correct answer--a. SNP
-b. copy number of variants (CNV)
4. What is haplotype? - correct answer-- DNA alterations (including SNPs) that are
genetically linked together
5. How many genes and what percentage of DNA that makes human genome? - correct
answer-- 3 billion base pairs in human genome
- 23,000-30,000 genes (about 2% of DNA)
6. Osteogenesis imperfecta:
Mode of inheritance: a
Gene: b
Identify the term that affects variable phenotypes: OI can arise from mutations in two
different procollagen genes (COL1A1 or COL1A2): c - correct answer-- a. autosomal
dominant
- b. COL1A or COL1A2
- c. locus heterogeneity ?
7. Identify how to calculate recurrent risk for:
One child having affected dominant trait from a heterozygous father with autosomal
dominant (AD) (penetrance 50%; mother is normal):
Two children having affected from a heterozygous autosomal dominant father (Full
penetrance; mother is normal homozygous):
Autosomal recessive trait (Full penetrance; from heterozygous parents): - correct
answer-risk for - Ad or AA
dad - Aa
mom - aa
child has 50% Aa and 50% aa
recurrent risk = probability of disease x penetrance = 50% x 50% = 25%
, penetrance = 100%
dad = Aa
mother = AA
trait is dominant
child has 0% chance of having aa
parents are - Aa
full penetrance
autosammal recessive
children have 25% chance of aa
8. Identify mode of inheritance. Enzyme defects (PKU; Homocystinuria, Lesch-Nyhan;
Tay-Sachs; I- cell disease; XP) are almost always: - correct answer-autosomal recessive
9. Identify two factor and one sub-factor that affect mutation selection equilibrium - correct
answer-5 necessary characteristics for allele equilibrium:
- random mating
- large mating population
- no mutations
- no immigration or emigration
- no natural selection
subfactor?
B thalassemia is an example of (blank), in which multiple phenotypes arise from mutations in
a single locus, in this case at the B glob in locus - correct answer-phenotypic heterogeneity
basics - organization
- describe basic information of the human genome, including numbers of the genes and the
chromosomes, and how DNA is packaged into chromatin - correct answer-- number of
human chromosomes = 46
- autosomal chromosomes = 44 (22 pairs)
- sex chromosomes = 2 (1 pair)
- male = XY
- female = XX
DNA --> nucleosome --> solenoid --> chromosome
human genome:
- 3 billion base pairs
- 23,000 - 30,000 genes (less than 2% of DNA) - genes for proteins and miRNA
- 1,000 genes for miRNA
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