Thin basement membrane disease other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
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[[DNA sequencing]] of [[COL4A3]],[[COL4A4]], [[COL4A5]] is needed for differentiating [[TBMD]] and [[Alport syndrome]] in specialized [[laboratory]]. | |||
==Genetic analysis== | ==Genetic analysis== | ||
[[Heterozygous]] [[mutation]] in [[COL4A3]] and [[COL4A4]] [[gene]] is responsible for causing [[autosomal dominant]] pattern of 40-50% of [[Thin basement membrane disease]] in which people have defective alpha 3, alpha 4 , alpha 5 chains. <ref name="pmid22410250">{{cite journal |vauthors=Miner JH |title=The glomerular basement membrane |journal=Exp. Cell Res. |volume=318 |issue=9 |pages=973–8 |date=May 2012 |pmid=22410250 |pmc=3334451 |doi=10.1016/j.yexcr.2012.02.031 |url=}}</ref> And [[heterozygous]] [[mutation]] in [[COL4A5]] gene in [[X-chromosome]] may cause [[Thin basement membrane disease]] in [[female]]. [[DNA sequencing]] of [[COL4A3]],[[COL4A4]], [[COL4A5]] is needed for differentiating [[TBMD]] and [[Alport syndrome]] in specialized [[laboratory]]. <ref name="urlThin Basement Membrane Nephropathy | American Society of Nephrology">{{cite web |url=https://jasn.asnjournals.org/content/17/3/813#sec-4 |title=Thin Basement Membrane Nephropathy | American Society of Nephrology |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== | ||
Revision as of 21:40, 24 October 2020
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Overview
DNA sequencing of COL4A3,COL4A4, COL4A5 is needed for differentiating TBMD and Alport syndrome in specialized laboratory.
Genetic analysis
Heterozygous mutation in COL4A3 and COL4A4 gene is responsible for causing autosomal dominant pattern of 40-50% of Thin basement membrane disease in which people have defective alpha 3, alpha 4 , alpha 5 chains. [1] And heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement membrane disease in female. DNA sequencing of COL4A3,COL4A4, COL4A5 is needed for differentiating TBMD and Alport syndrome in specialized laboratory. [2]
References
- ↑ Miner JH (May 2012). "The glomerular basement membrane". Exp. Cell Res. 318 (9): 973–8. doi:10.1016/j.yexcr.2012.02.031. PMC 3334451. PMID 22410250.
- ↑ "Thin Basement Membrane Nephropathy | American Society of Nephrology".