X-linked thin basement membrane nephropathy was linked with COL4A5 gene
Zhang, C.; Zhu, S.; Zhang, Y.
Zhonghua Yi Xue Za Zhi 80(8): 582-584
2000
ISSN/ISBN: 0376-2491 PMID: 11798821 Document Number: 522642
To genetically analyze 9 thin basement membrane nephropathy (TBMN) pedegrees using microsatellite marker 2B6 and DXS101 closely linked with COL4A5 gene located on chromosome X. Genomic DNA was extracted. Highly polymorphic microsatellite markers (2B6 and DXS101) closely linked with COL4A5 gene located on chromosome X were amplified with PCR. Nine TBMN families were analysed. Three of 9 TBMN families were linked with COL4A5 gene on chromosome X (lod score = 2.7, theta = 0.00). X-linked TBMN is linked with COL4A5 gene on chromosome X.