Please help: Detail the Table below to summarize the search for gene(s) responsi
ID: 175167 • Letter: P
Question
Please help:
Detail the Table below to summarize the search for gene(s) responsible for Miller syndrome. In particular, explain the significance of the highlighted cells.
"Exome sequencing identifies the cause of a mendelian disorder." Nature genetics 42.1 (2010): 30-35.
Kindred 1-A Kindred 1 (A+B) Filter Dominant Recessive Dominant Recessive Dominant Recessive Dominant Recessive Dominant Recessive 4,687 2,654 1,525 NS/SS/I 2,863 2,859 3,940 2,362 3,099 4,670 1,810 Not in dbSNP129 641 102 647 114 369 53 105 25 63 21 Not in HapMap 8 898 123 923 128 506 46 Not in either 456 31 464 Predicted damaging 204 204 12 83 Each cell indicates the number of genes with nonsynonymous (NS) variants, splice acceptor and donor site mutations (SS) and coding indels (l). Filtering either by requiring the presence of NS/SS/I variants in siblings (kindred 1 (A+B)) or of multiple unrelated individuals (columns) or by excluding annotated variants (rows) identifies 26 and 8 candidate genes under a dominant model and only a single candidate gene, DHODH, under a recessive model (light gray cells). Exclusion of mutations predicted to be benign using PolyPhen (row 5) increases sensitivity under a dominant model but excludes DHODH under a recessive model because a variant in kindred 1 is predicted to be benign. A single candidate gene is identified in kindred 1 under a recessive model and excluding benign mutations (dark gray ce but this candidate is excluded in comparisons with unrelated cases of Miller syndrome. Mutations in this candidate, DNAH5, were found to cause a primary ciliary dyskinesia in kindred 1. The asterisk indicates that a second gene, CDC27, was also identified as a candidate gene, but this is due to the presence of multiple copies of a processed pseudogene that recurrently gave rise to a false positive s in excome analysesExplanation / Answer
Gene responsible for millor syndrome is DHODH gene.this gene located on chromosome 16q22 position.
This gene encode for an enzyme dihydrooroted dehydrogenese.