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. 2005 Nov 1;138(4):392-5.
doi: 10.1002/ajmg.a.30949.

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12

Rehan Sadiq Shaikh, Khushnooda Ramzan, Sabiha Nazli, Sameera Sattar, Shaheen N Khan, Saima Riazuddin, Zubair M Ahmed, Thomas B Friedman, Sheikh Riazuddin

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12

Rehan Sadiq Shaikh et al. Am J Med Genet A. .
No abstract available

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Figures

Fig. 1
Fig. 1
Pedigrees of families PKDF240 and PKDF407 segregating recessive deafness with haplotypes of markers at 11p13-p12. Filled and clear symbols represent affected and unaffected individuals, respectively. The core haplotypes are boxed representing the ancestral chromosome harboring DFNB51. A Haplotypes of PKDF240 revealed a 8.33 cM interval delimited by markers D11S4200 and D11S1279. Affected individuals VI:6, VII:3, VII:5, VII:7, and VII:8 provided the centromeric break point at marker D11S4200, while affected individuals VI:6 and her offspring provided the telomeric recombination at marker D11S1279. Spouses V:1 and VI:3 are thought to be distantly related cousins; however their relationship could not be confirmed. B Haplotypes of PKDF407 showing a homozygous region of 14.04 cM delimited by markers D11S904 and D11S4102. The STR markers and their relative positions in centiMorgan (cM) according to the Marshfield human genetic map [http://research.marshfieldclinic.org/genetics] are shown on the left side of the each pedigree.
Fig. 2
Fig. 2
Schematic representation of the DFNB51 interval on chromosome 11p13-p12 showing STR markers ( [Image: see text]) and meiotic recombinations (X). Solid vertical lines represent the genetic intervals in which affected individuals are homozygous for the STR markers. Based on analyses of family PKDF240, DFNB51 resides in a critical interval of approximately 8.33 cM, delimited by D11S4200 (42.55 cM) and D11S1279 (50.88 cM). There are 23 genes annotated in the DFNB51 interval [UCSC Genome Browser, http://genome.ucsc.edu]. Genes in the 5.06 cM DFNB51 interval are shown in bold font. Genes that are highlighted were sequenced and no mutations were found. Gene symbols were approved by the HUGO Gene Nomenclature Committee [Povey et al., 2001].
See this image and copyright information in PMC

References

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