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Literature DB >> 8789454

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.

H Chaïb¹, C Place, N Salem, S Chardenoux, C Vincent, J Weissenbach, E El-Zir, J Loiselet, C Petit.

Abstract

The recessive mode of transmission accounts for approximately 75% of inherited non syndromic deafness cases. We have previously designed the conditions for linkage studies of this highly heterogeneous disorder [Guilford et al. (1994) Nature Genet. 6, 24-28]. Here, using a similar approach, we have studied the segregation of a gene responsible for congenital, profound and fully penetrant sensorineural deafness in a consanguineous family living in an isolated region of Lebanon. A maximum lod score of 8.03 (theta = 0.00) was detected with a new polymorphic marker, AFMa052yb5 (D2S2144). Observed recombinants and homozygosity mapping define a maximum interval of 2 cM for this gene, DFNB6, which lies between AFMb346ye5 (a new polymorphic marker) (D2S2303) and AFM254vc9 (D2S174) on chromosome 2p22-23.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 1996 PMID： 8789454 DOI： 10.1093/hmg/5.1.155

Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150

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Cited

15 in total

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4. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Authors: D A Scott; R Carmi; K Elbedour; S Yosefsberg; E M Stone; V C Sheffield
Journal: Am J Hum Genet Date: 1996-08 Impact factor: 11.025

5. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Authors: D A Campbell; D P McHale; K A Brown; L M Moynihan; M Houseman; G Karbani; G Parry; A H Janjua; V Newton; L al-Gazali; A F Markham; N J Lench; R F Mueller
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6. Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21.

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7. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

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