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DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.
Ansar, Muhammad; Chahrour, Maria H; Amin Ud Din, Mohammad; Arshad, Muhammad; Haque, Sayedul; Pham, Thanh L; Yan, Kai; Ahmad, Wasim; Leal, Suzanne M.
Afiliação
  • Ansar M; Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Hum Hered ; 57(4): 195-9, 2004.
Article em En | MEDLINE | ID: mdl-15583425
ABSTRACT
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 7 / Genes Recessivos / Perda Auditiva Limite: Female / Humans / Male Idioma: En Revista: Hum Hered Ano de publicação: 2004 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 7 / Genes Recessivos / Perda Auditiva Limite: Female / Humans / Male Idioma: En Revista: Hum Hered Ano de publicação: 2004 Tipo de documento: Article