Thin basement membrane disease other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
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 | [[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]]. | ||
==Genetic analysis== | ==Genetic analysis== | ||
*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> | |||
*[[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 17:59, 20 October 2020
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Overview
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.
Genetic analysis
- 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".