i Five definitions (2 points each) a. Proband b. Penetrance c. Non-sense mutatio
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i Five definitions (2 points each) a. Proband b. Penetrance c. Non-sense mutation d. Trisomy e. Homologous chromosomes Describe common and different features between the two terms (3 points each) a. Monosomy vs polisomy b. Karyotyping vs. FISH Autosomal dominant vs. autosomal recessive inheritance 3. List major categories of diversity. (5 points) 4. A woman has a brother with an autosomal recessive condition but she is not affected neither of her parents is affected. Her husband is not known to have a family history of the disorder. The population frequency of this disorder is 1:40000. What is the risk of having an affected child? (6 points)Explanation / Answer
Answer- 1.
(A) Proband: it is a term used to denote the particular subject like human or animal which is being studied in the field of medical genetics. It is denoted with square in males and with circle in female case.
(B) Penetrance: it is defined as the frequency of occurance of a particular condition like diseases, shows among individuals which carry the same diseases causing gene.
(C) Non sense mutation: it is a type of mutation in a DNA base which stops the translation of mRNA before maturity results into the production of mainly non functional and incomplete protein.
(D) Trisomy: it is a condition when abnormal number of chromosomal copies are present in an organism. E.g- when a diploid organism has three copies of one of the chromosome.
(E) Homologous chromosomes : Defimed as the chromosomes which carry same gene at same locus but may have different allels.
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