Abstract
A consanguineous family with autosomal recessive nonsyndromic hearing impairment (NSHI) was ascertained in Pakistan and displayed significant evidence of linkage to 3q13.31-q22.3. The novel locus (DFNB42) segregating in this kindred, maps to a 21.6 cM region according to a genetic map constructed using data from both the deCode and Marshfield genetic maps. This region of homozygosity is flanked by markers D3S1278 and D3S2453. A maximum multipoint LOD score of 3.72 was obtained at marker D3S4523. DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3.
Original language | English (US) |
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Pages (from-to) | 18-22 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 133 A |
Issue number | 1 |
DOIs | |
State | Published - Feb 15 2005 |
Keywords
- 3q13.31-q22.3
- DFNB42
- Nonsyndromic hearing impairment
- Pakistan
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)