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Abstract
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Article Information:
Haplotype Analysis for DFNB4/PDS Locus in Hearing Impaired Families of Punjab (Pakistan)
Syed Babar Jamal, Zubair Anwar, Rizwan Ullah Khan, Talal Jamil, Arshia Iram, Asif Mir, Muhammad Waqar and Jabar Zaman Khan Khattak
Corresponding Author: Zubair Anwar
Submitted: January 20, 2012
Accepted: February 28, 2012
Published: July 10, 2012 |
Abstract:
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Deafness is one of the most common genetic disorders affecting 1 in 1000 newborns worldwide,
while in Pakistan, its prevalence is 1.6/per1000.The present study was conducted to map reported autosomal
recessive deafness locus DFNB4/PDS in highly consanguineous families in Punjab. For this purpose families
with deafness were identified . Blood samples of these families were studied for linkage analysis of common
reported deafness locus DFNB4/PDS. Genomic DNA was isolated from the blood samples of these families.
Linkage analysis was then performed by amplifying microsatellite markers through PCR, Genotyping was done
by ABI PRISM® 3730 Genetic Analyzer. The Deaf Family was found linked to microsatellite markers of
DFNB4/PDS. Linkages analysis showed that all three affected were homozygous for three STR markers for
DFNB4/PDS while individuals V: 3 was heterozygous i.e., is carrier for DFNB4. Therefore individuals V: 3
were phenotypically normal but genotypically he is carrier. As the ages of that affected individuals’ ranges from
three years to seven years they might develop goiter at a later age. Therefore at present this family is linked to
an overlapping nonsyndromic/ syndromic locus DFNB4/PDS.
Key words: Consanguineous, genotypically, microsatellite, phenotypically, , ,
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Cite this Reference:
Syed Babar Jamal, Zubair Anwar, Rizwan Ullah Khan, Talal Jamil, Arshia Iram, Asif Mir, Muhammad Waqar and Jabar Zaman Khan Khattak, . Haplotype Analysis for DFNB4/PDS Locus in Hearing Impaired Families of Punjab (Pakistan). Current Research Journal of Biological Sciences, (4): 407-413.
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ISSN (Online): 2041-0778
ISSN (Print): 2041-076X |
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