经典型阿尔波特综合征基因的定位
Localization of the gene for classic Alport syndrome.
作者信息
Flinter F A, Abbs S, Bobrow M
机构信息
Paediatric Research Unit, United Medical School, Guy's Hospital, London Bridge, United Kingdom.
出版信息
Genomics. 1989 Apr;4(3):335-8. doi: 10.1016/0888-7543(89)90339-x.
The inheritance of Alport syndrome has been controversial for 30 years because no clear diagnostic criteria were established to define a clinically homogeneous group of patients. In this study, 41 families with "classic" Alport syndrome were identified and studied. All the pedigrees are compatible with X-linked inheritance. A formal genetic study confirmed linkage to probe S21 (DXS17), with a maximum LOD score of 4.72 at a recombination frequency of 0.06.
30年来，奥尔波特综合征的遗传方式一直存在争议，因为尚未确立明确的诊断标准来界定临床特征均一的患者群体。在本研究中，我们识别并研究了41个患有“典型”奥尔波特综合征的家庭。所有家系均符合X连锁遗传。一项正式的遗传学研究证实与探针S21（DXS17）连锁，在重组率为0.06时最大对数优势分数为4.72。
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