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. 2003;55(1):71-4.
doi: 10.1159/000071813.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan

Muhammad Ansar  1 , Mohammad Ramzan, Thanh L Pham, Kai Yan, Syed Muhammad Jamal, Sayedul Haque, Wasim Ahmad, Suzanne M Leal
Affiliations

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan

Muhammad Ansar et al. Hum Hered. 2003.

Abstract

For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26-q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26-q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map.

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Figures

Fig. 1
Fig. 1
Drawing of pedigree 4004 that segregates the DFNB38 locus. The sexes of some of the family members have been changed to protect the anonymity of the family. Black symbols represent individuals with hearing impairment and clear symbols represent unaffected individuals. Haplotypes for the most closely linked STRPs are shown below each symbol. When it is possible to distinguish the first haplotype displayed is the paternal haplotype. The region of homozygosity for hearing impaired individuals is shown in bold. The markers D6S980 and D6S1719 which flank the critical region are denoted by a star.
See this image and copyright information in PMC

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