In:
Human Heredity, S. Karger AG, Vol. 71, No. 2 ( 2011), p. 106-112
Abstract:
A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes 〈 i 〉 ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 〈 /i 〉 and 〈 i 〉 RPA3 〈 /i 〉 , which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.
Type of Medium:
Online Resource
ISSN:
0001-5652
,
1423-0062
Language:
English
Publisher:
S. Karger AG
Publication Date:
2011
detail.hit.zdb_id:
1482710-4
SSG:
12
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