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Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2 - PubMed

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Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2

S Irshad et al. Clin Genet. 2005 Sep.

Abstract

Hereditary hearing impairment (HI) is the most genetically heterogeneous trait known in humans. So far, 54 autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 21 ARNSHI genes have been identified. Here is reported the mapping of a novel ARNSHI locus, DFNB55, to chromosome 4q12-q13.2 in a consanguineous Pakistani family. A maximum multipoint LOD score of 3.5 was obtained at marker D4S2638. The region of homozygosity and the 3-unit support interval are flanked by markers D4S2978 and D4S2367. The region spans 8.2 cm on the Rutgers combined linkage-physical map and contains 11.5 Mb. DFNB55 represents the third ARNSHI locus mapped to chromosome 4.

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Figures

Fig. 1
Fig. 1

Pedigree drawing of family 4153. Black symbols represent individuals with hearing impairment. Clear symbols represent unaffected individuals. The sex of some of the family members was changed to protect the anonymity of the family. Allele sizes in kilobases are indicated beside the upper column of microsatellite markers. Alleles are numbered according to the CEPH Genotype database V10.0 (5). Haplotypes are shown below each individual for whom genotypes are available. For individuals in generation V, maternal haplotypes are displayed on the left-hand side and paternal haplotypes on the right-hand side. Arrows and shaded areas indicate the region of homozygosity.

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References

    1. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16–31. - PubMed
    1. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. [Accessed March 2005]. from http://webhost.ua.ac.be/hhh/
    1. Grimberg J, Nawoschik S, Bellusico L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 1989;17:83–90. - PMC - PubMed
    1. Santos RLP, Wajid M, Pham TL, et al. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet. 2005;67:61–68. - PMC - PubMed
    1. Murray JC, Buetow KH, Weber JL, et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC) Science. 1994. [Accessed April 2005]. pp. 2049–2054. CEPH Genotype database V10.0 – November 2004. from http://www.cephb.fr/cephdb/ - PubMed

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