Afzal A R, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday V A, Houlston R, Patton M A, Jeffery S
Medical Genetics Unit, St. George's Hospital Medical School, London, UK.
Hum Genet. 2000 Mar;106(3):351-4. doi: 10.1007/s004390051049.
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.
常染色体隐性遗传性罗宾诺综合征是一种伴有多发肋骨和脊椎异常的中肢短小性侏儒症。通过纯合性定位，我们在来自阿曼的7个近亲家庭中，于9号染色体q22区域确定了该综合征的一个基因位点（RBNW1）。我们的研究结果表明，该基因位于标记D9S1836和D9S1803之间4厘摩的区域内（最大多位点对数优势分数为12.3）。此外，我们分析了两个患有常染色体隐性遗传性罗宾诺综合征的非阿曼家庭，未发现基因异质性。
