title: Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan.
abstract: OBJECTIVE
  To determine the existence of autosomal recessive deafness loci in different ethnic tribes of the Punjab.
  
  
  METHODS
  Descriptive observational study.
  
  
  METHODS
  Department of Human Genetics and Centre of Excellence in Molecular Biology, University of Health Sciences, Lahore, from July 2009 to March 2012.
  
  
  METHODS
  Healthy willing subjects with autosomal recessive deafness loci were studied for selected deafness loci. Those who were unhealthy and gave history of infectious disease were excluded. DNAextraction was carried out using the inorganic method. Fluorescently labeled microsatellite markers were used for amplification of desired regions by PCR (Polymerase Chain Reaction). Automated allele assignment was performed using the ABI PRISM GeneScan Analysis Software Version 3.7 for Windows NTPlatform. Two-point LOD scores were calculated using the FASTLINK computer package (Schaffer 1996) and MLINK was used for calculation and 95% CI (confidence intervals) were calculated.
  
  
  RESULTS
  One hundred and thirty two individuals of 8 families were analyzed. Three families (SAPun-03, SAPun-10 and SAPun-15) were found linked to DFNB12; two families (SAPun-05 and SAPun-17) were found linked to DFNB8/10, while three families (SAPun-06, SAPun-13 and SAPun-19) were found linked to DFNB29, DFNB36 and DFNB37 respectively.
  
  
  CONCLUSIONS
  The genotyping results revealed that DFNB12 locus was the most common followed by DFNB8/10 locus, while the Loci DFNB29, DFNB36 and DFNB37 were less common.
authors: Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore.
authors: Sajjad
authors: S
authors: Ullah
authors: Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore.
authors: Muhammad
authors: M
authors: Aslamkhan
authors: Dr. A.Q. Khan PCR Lab, Allama Iqbal Medical College, Lahore.
authors: Amna
authors: A
authors: Rasheed
mesh_terms: D000293:Adolescent; D002648:Child; D002874:Chromosome Mapping; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D005006:Ethnicity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010154:Pakistan; D010375:Pedigree