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[Whole genome-wide scanning for a large pedigree with matrilineal deafness]
1Department of Otorhinolaryngology, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China. rad1999@publicl.ptt.js.cn
Objective:
To search responsible nuclear genes for matrilineal non-syndromic deafness.
Methods:
Whole genome-wide scanning was performed to analyze the 365 short tandem repeats in a deaf pedigree with maternal inheritance using DNA pooling strategy. Frequencies of allele in one patient pool were compared with that in one unaffected relative pool as well as in one normal control pool. Linkage analysis was also conducted in some positive loci.
Results:
Allele from 45 loci occurred more frequently in the patient pool than that in the unaffected relative pool and the control pool. No linkage was found from any candidate locus investigated.
Conclusion:
45 positive loci obtained from this family may be as the candidate positions for matrilineal non-syndromic deafness.