Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32‐p11.31 | Zendy

Mir Asif | Zendy; Ansar Muhammad | Zendy; Chahrour Maria H. | Zendy; Pham Thanh L. | Zendy; Wajid Muhammad | Zendy; Haque Sayedul | Zendy; Yan Kai | Zendy; Ahmad Wasim | Zendy; Leal Suzanne M. | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32‐p11.31

Author(s) -

Mir Asif,

Ansar Muhammad,

Chahrour Maria H.,

Pham Thanh L.,

Wajid Muhammad,

Haque Sayedul,

Yan Kai,

Ahmad Wasim,

Leal Suzanne M.

Publication year - 2005

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.30516

Subject(s) - genetics , locus (genetics) , microsatellite , biology , lod score , gene mapping , chromosome , genetic marker , gene , allele

Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32‐p11.31 in a five‐generation Pakistani family. A 10 cM genome‐wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three‐unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence‐based physical map. © 2005 Wiley‐Liss, Inc.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research