Question

13,15 & 16

13. Deletion, Translocation, Inversion, Duplication, OR Mosaicism? Involved in 46, 5p- May result in a position effect which affects gene expression May result in pseudodominance of allele normally recessive to a dominant allele Two genetically distinct populations of cells in a single individual Will result in abnormal gamete formation (more than one answer) Involved in familial Down syndrome Lethal if it occurs in the same region of two homologous chromosomes No loss or gain of genetic material is involved (2 answers) Cell will have 45 chromosomes Increase of genetic material, may be tandem or reverse 46, XX 45. X (one individual) 14. Fill in the blanks on the pathway for phenylalanine metabolism. The arrows represent a mutant enzyme (and corresponding gene) that does not function in the pathway. phenylalanin Name of desse blocked crem 3.46 hydroxy phenylalanine blocked phydroxypheny Pyruvic acid blocked thyroxin b. Name of pigment 25 hydroxyphen! Pyruvic acid homogenisic blocked tonuria maleylacetoacetic acetic acid 15. List three possible modes of inheritance for this trait. Show your reasoning by indicating possible genotypes for each individual in each pedigree. 16. Before DNA sequences were available, the relationship between humans and other primates was supported by similarities between their chromosomes. The G-banding patter of chromosome 4 of humans and chimpanzees is shown below. What specific type of chromosomal change has occurred? (select from reciprocal translocation, interstitial deletion, pericentric inversion, paracentric inversion, robertsonian fusion, tandem duplication, reverse duplication) Huma Chimpanzee

Answer 1

13 a deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat

b Translocation.

C deletion.

d. Inversion.

e.Translocation , deletion.

F .. Translocation.

G.duplication, deletion.

h. Translocation.

I. Mosaicism.

J . Duplication.

K. 46xx tranlocation . 45x turners syndrome .

15.

Modes of inheritance in pedigree.

X linked recessive ., x linked dominant, autosomal recessive.

16.humans and chimpanzee chromosome.

Reciprocal translocation.