A series of genetic studies conducted by Patricia L. Weng, MD (Mount Sinai School of Medicine), and Simone Sann-Cherchi, MD (Columbia University), were performed to investigate the genetic behaviour of vesicoureteric reflux. Research suggests that there a strong correlation between genetic abnormalities and a predisposition for vesicoureteric reflux, also known as VUR. VUR is one of the most common causes for paediatric kidney failure and urinary retract infections. It is caused by a defective valve in the bladder refluxing urine waste back into the kidneys.
In the study “A Recessive Gene for Primary Vesicoureteral Reflux Maps to Chromosome 12p11-q13” the genotypic characteristics of 12 large families affected by the condition were investigated. The investigation employed a method known as linkage analysis which helped to identify the gene responsible for VUR (pVUR) and narrowed the location of the gene to chromosome 12. The scans suggested that the pVUR gene is genetically heterogeneous. Furthermore the absence of the pVUR gene in parents of affected offspring implied the possibility of an autosomal recessive inheritance. However further studies in the investigation found that different forms of inheritance contributed to the trait, suggesting that the inheritance could be dominant or recessive.
The investigation narrowed the down the location of the gene and therefore achieved a critical step towards determining the gene responsible for VUR.
References
References
Weng et al. A Recessive Gene for Primary Vesicoureteral Reflux Maps to Chromosome 12p11-q13. Journal of the American Society of Nephrology, May 17, 2009; DOI: 10.1681/ASN.2008111199 http://jasn.asnjournals.org/cgi/content/abstract/ASN.2008111199v1
Science News: ScienceDaily, 2009, Accessed May 17 http://www.sciencedaily.com/releases/2009/05/090514170801.htm
Picture
No comments:
Post a Comment