RESUMO

Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.

Assuntos

Cromossomos Humanos Par 9/genética , Nanismo/genética , Osso e Ossos/anormalidades , Brasil , Mapeamento Cromossômico , Consanguinidade , Genes Recessivos , Ligação Genética , Haplótipos , Humanos , Escore Lod , Repetições de Microssatélites , Omã , Reino Unido