Identification of the genes responsible for Alport syndrome and polycystic kidney diseases
β Scribed by T. Mochizuki
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 89 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1342-1751
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The identification of genomic loci associated with human genetic syndromes has been significantly facilitated through the generation of high density SNP arrays. However, optimal selection of candidate genes from within such loci is still a tedious labor-intensive bottleneck. Syndrome to Gene (S2G) i
Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred
The autosomal dominant form of polycystic kidney disease (ADPKD) has been linked to the alpha-globin gene locus on 16p. Linkage studies between the autosomal recessive type (ARPKD) and the 3' HVR of the alpha-globin gene cluster showed that the ARPKD and ADPKD are not allelic.