The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar.
Indian J Hum Genet
;
2012 May; 18(2): 217-221
Article
Dans Anglais
| IMSEAR
| ID: sea-143273
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pakistan
/
Pedigree
/
Haplotypes
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Humains
/
Prévalence
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Études de cohortes
/
Connexines
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Surdité
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Études d'associations génétiques
/
Perte d'audition
Type d'étude:
Etude d'étiologie
/
Etude d'incidence
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Étude observationnelle
/
Étude de prévalence
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Étude pronostique
/
Facteurs de risque
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2012
Type:
Article
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