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. 2005 Feb 15;133A(1):23-6.
doi: 10.1002/ajmg.a.30516.

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Asif Mir  1 , Muhammad Ansar, Maria H Chahrour, Thanh L Pham, Muhammad Wajid, Sayedul Haque, Kai Yan, Wasim Ahmad, Suzanne M Leal
Affiliations

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Asif Mir et al. Am J Med Genet A. .

Abstract

Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for approximately 75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.

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Figures

Fig. 1
Fig. 1
Drawing of pedigree 4046, which segregates DFNB46. The sexes of some of the family members have been changed to protect the anonymity of the family. Black symbols represent individuals with deafness due to DFNB46. Clear symbols represent unaffected individuals. Haplotypes for the most closely linked STRs are shown below each symbol. The haplotypes for DFNB46 are displayed in boxes.
See this image and copyright information in PMC

References

    1. Broman K, Murray JC, Scheffield VC, White RL, Weber JL. Comprehensive human genetic maps: Individual and sex specific variation in recombination. Am J Hum Genet. 1998;63:861–869. - PMC - PubMed
    1. Cottingham R, Indury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252–263. - PMC - PubMed
    1. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre d’etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome. Genomics. 1990;6:575–577. - PubMed
    1. Gorlin R, Toriello HV, Cohen MM. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press; 1995.
    1. Grimberg J, Nawoschik S, Bellusico L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acid Res. 1989;17:83–90. - PMC - PubMed

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