Zhonghua yi xue za zhi · 2000
[X-linked thin basement membrane nephropathy was linked with COL4A5 gene].
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Zhang C, Zhu S, Zhang Y
Аннотация
OBJECTIVE: 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.
METHODS: 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.
RESULTS: Three of 9 TBMN families were linked with COL4A5 gene on chromosome X (lod score = 2.7, theta = 0.00).
CONCLUSION: X-linked TBMN is linked with COL4A5 gene on chromosome X.
METHODS: 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.
RESULTS: Three of 9 TBMN families were linked with COL4A5 gene on chromosome X (lod score = 2.7, theta = 0.00).
CONCLUSION: X-linked TBMN is linked with COL4A5 gene on chromosome X.