M'Rad R, Sanak M, Deschenes G, Zhou J, Bonaiti-Pellie C, Holvoet-Vermaut L, Heuertz S, Gubler M C, Broyer M, Grunfeld J P
INSERM U12, Hôpital Necker-Enfants Malades, Paris, France.
Hum Genet. 1992 Dec;90(4):420-6. doi: 10.1007/BF00220471.
Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of the Alport gene between DXS17 and DXS11. Four deletions and one single base mutation of the COL4A5 gene were detected. Homogeneity tests failed to show any evidence of genetic heterogeneity superimposed on clinical heterogeneity for ophthalmic signs and end-stage renal disease age.
对31个患有Alport综合征的家庭进行了研究，其中包括3个伴有相关综合征的家庭。通过使用Xq臂的8个探针进行连锁分析以及辐射杂种板，确定了导致Alport综合征的COL4A5基因的位置。一致的数据表明Alport基因定位于DXS17和DXS11之间。检测到COL4A5基因的4处缺失和1处单碱基突变。对于眼科体征和终末期肾病年龄，同质性检验未能显示出任何叠加在临床异质性之上的遗传异质性证据。
