part 1 Evolutionary Course Project answers s Mailings Review View Aa No Spacing
ID: 217646 • Letter: P
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part 1 Evolutionary Course Project answers s Mailings Review View Aa No Spacing 11) Review this excerpt from https://www.ncbi.nlm.nih.gov/clinvarivariation/446262/#supporting -observations "In a patient (UW284-3) with Joubert syndrome (JBTS34; see 614175), Bachmann-Gagescu et al. (2015) identified compound heterozygous mutations in the B9D2 gene: gly155-to-ser (G155S) inherited from the mother and pro74-to- ser (P74S; 611951.0004) inherited from the father. The mutation was identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variant were performed." Do compound heterozygous mutations relate to how the same gene can be mutated different ways leading to the same pathology? What does it mean that no functional studies of the variant were performed? Be specific in your response. MacBook AirExplanation / Answer
The patient with Joubert syndrome was identified with compound heterozygous mutations in the B9D2 gene: gly155-to-ser (G155S) inherited from the mother and pro74-to-ser (P74S; 611951.0004) inherited from the father.
Compound heterozygosity is the presence of 2 different mutant alleles at a particular gene locus, one on each chromosome of a pair. The human genome has 2 copies of each gene, a paternal and a maternal allele. A mutation which affects only 1 allele is called heterozygous. A homozygous mutation is. the presence of the same mutation on both alleles of a specific gene. However, when both alleles of a particular gene have mutations which are different, then it is called compound heterozygous. In this case, B9D2 gene has two different mutations each inherited from the parents which are resulting in the development of the same pathology.
Functional studies of a variant are done to check it's functional significance. Here it was not performed, hence the variants function is not known
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