Open Access
DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22
Author(s) -
Muhammad Ansar,
Maria H. Chahrour,
Mohammad Amin ud Din,
Muhammad Imran Arshad,
Sayedul Haque,
Tam Dan N. Pham,
Kai Yan,
Wasim Ahmad,
Suzanne M. Leal
Publication year - 2004
Publication title -
human heredity
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.423
H-Index - 62
eISSN - 1423-0062
pISSN - 0001-5652
DOI - 10.1159/000081446
Subject(s) - genetics , locus (genetics) , biology , chromosome , medicine , gene
The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI account for approximately 75% of hereditary cases. A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map.