| ORIGINAL ARTICLE |
|
| Year : 2012 | Volume
: 18
| Issue : 2 | Page : 217-221 |
|
|
The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar
Zafar Ali1, Masroor Ellahi Babar1, Jamil Ahmad2, Sajjad Ali Shah1
1 Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan
2 Faculty of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Queta, Pakistan
Correspondence Address:
Masroor Ellahi Babar
Director, Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore
Pakistan
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/0971-6866.100771
|
|
|
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. |
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
