5. LINKAGE OF DNA MARKERS ON CHROMOSOME 13 WITH WILSON DISEASE
نویسندگان
چکیده
منابع مشابه
Oguchi disease: suggestion of linkage to markers on chromosome 2q.
Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness. The condition is associated with fundus discolouration and abnormally slow dark adaptation. Earlier studies suggested that the 48 kD protein S antigen may be involved in the recovery phase of light transduction. Previous cytogenetic and linkage studies have localised the S antigen gene (SAG) to chromosom...
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BACKGROUND & OBJECTIVES Wilson disease (WD) is an autosomal recessive disorder caused by defects in ATP7B gene located in chromosome 13q14, and manifested as hepatolenticular degeneration as a result of accumulation of copper. No information on the mutation in the ATP7B gene and haplotypes using linked markers is available for WD patients in India. Hence, the present study was undertaken to ide...
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Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
متن کاملLinkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. Apparently, most patients are sporadic cases. The genetic mechanism underlying ...
متن کاملLinkage analysis of microsatellite markers on chromosome 5 in an F2 population of Japanese quail to identify quantitative trait loci affecting carcass traits
An F2 Japanese quail population was developed by crossing two strains (wild and white) to map quantitative trait loci (QTL) for performance and carcass traits. A total of 472 F2 birds were reared and slaughtered at 42 days of age. Performance and carcass traits were measured on all of the F2 individuals. Parental (P0), F1 and F2 individuals were genotyped with 3 microsatellites from quail chrom...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198707000-00026