例如:"lncRNA", "apoptosis", "WRKY"

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Hum. Hered.2011;71(2):106-12. Epub 2011 Jul 06
Ghazanfar Ali 1 , Kwanghyuk Lee , Paula B Andrade , Sulman Basit , Regie Lyn P Santos-Cortez , Leon Chen , Musharraf Jelani , Muhammad Ansar , Wasim Ahmad , Suzanne M Leal
Ghazanfar Ali 1 , Kwanghyuk Lee , Paula B Andrade , Sulman Basit , Regie Lyn P Santos-Cortez , Leon Chen , Musharraf Jelani , Muhammad Ansar , Wasim Ahmad , Suzanne M Leal
+ et al

[No authors listed]

Author information
  • 1 Department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.

摘要


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 is the eighth 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 ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified. Copyright © 2011 S. Karger AG, Basel.