## Abstract ## BACKGROUND: The bladder exstrophyβepispadias complex represents a spectrum of urogenital anomalies in which part or all of the distal urinary tract fail to close and are exposed on the outer abdominal wall. Previous studies are suggestive of an underlying multifactorial mode of inhe
Genome scan for association and linkage
β Scribed by Dr. P. Holmans; P. McGuffin; D. Clayton
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 313 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0741-0395
No coin nor oath required. For personal study only.
β¦ Synopsis
In this paper, a genome search is performed on the GAW Problem 1 data, in an attempt to determine which, if any, of the marker loci are associated and/or linked with the disease. Since there was no clear indication from the data of the likely mode of inheritance, methods were used which did not require such assumptions to be made. A two-stage procedure was used to test for association. Firstly a standard unmatched case-control test was applied to all the loci. The family-based method of Self et al. El9911 was then applied to those loci which gave a positive result in the first stage. This procedure correctly detected loci 1 and 2, and that disease risk was increased for homozygote carriers of the disease allele at each locus, although a false positive result was also found. The affected sib pair method of Holmans [1993] was also applied to the data, although the sample contained far too few sib-pairs for such an analysis to be effective. This analysis failed to find any ofthe disease loci.
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