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. 2012 May;18(2):217-21.
doi: 10.4103/0971-6866.100771.

The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar

Zafar Ali  1 , Masroor Ellahi Babar, Jamil Ahmad, Sajjad Ali Shah
Affiliations

The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar

Zafar Ali et al. Indian J Hum Genet. 2012 May.

Abstract

Families with at least 2 or more individuals having hereditary hearing loss were enrolled from different areas of Khyber Pakhtoonkhwa, mainly from district Peshawar. Detailed history was taken from each family to minimize the presence of other abnormalities and environmental causes for deafness. Families were questioned about skin pigmentation, hair pigmentation, and problems relating to balance, vision, night blindness, thyroid, kidneys, heart, and infectious diseases like meningitis, antibiotic usage, injury, and typhoid. The pedigree structures were based upon interviews with multiple family members, and pedigrees of the enrolled families were drawn using Cyrillic program (version 2.1). All families showed recessive mode of inheritance. I studied 8 families of these 10. For linkage analyses, studies for DFNB1 locus, 3 STR markers (D13S175, D13S292, and D13S787) were genotyped using polyacrylamide gel electrophoresis (PAGE) and haplotypes were constructed to determined, linkage with DFNB1 locus. From a total of 8 families, a single family-10 showed linkage to DFNB1 locus.

Keywords: Deafness; gene GJB2; linkage analysis; locus DFNB1.

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Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Family-10: Linked with locus DFNB1
See this image and copyright information in PMC

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