Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.
نویسندگان
چکیده
The genetic locus for autosomal dominant adult polycystic kidney disease was recently assigned to chromosome 16 by the finding of genetic linkage to the alpha globin gene cluster. Further study showed that the phosphoglycolate phosphatase locus is also closely linked to both the locus for adult polycystic kidney disease and the alpha globin gene cluster. These findings have important implications for the prenatal and presymptomatic diagnosis of adult polycystic kidney disease and for a better understanding of its pathogenesis.
منابع مشابه
Genetic linkage study of family members of a patient with adult polycystic kidney disease.
OBJECTIVE: To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN: Genetic linkage study. SETTING: University teaching hospital, Hong Kong. PARTICIPANTS: Six members of a Chinese family with a history of adult polycystic kidney disease. MAIN OUTCOME MEASURES: The inheritance pattern of adult polycystic kidn...
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Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. In Iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. So far, three genetic loci have been identified to be responsible for ADPKD. Little information is available concernin...
متن کاملStudies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.
Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic isoenzyme and antigenic markers in 184 members of 12 APKD families. We presen...
متن کاملRecombination or heterogeneity: is there a second locus for adult polycystic kidney disease?
Twenty-four families with adult onset polycystic kidney disease were typed for markers flanking the PKD1 locus on chromosome 16. The aggregated results gave a significant lod score in favour of linkage to PKD1. Within this group of families two showed unusual features: recombinations, including double recombinations, and, in one family, an unexpectedly high proportion of affected people. We con...
متن کاملMOLECULAR STUDY OF PKD1 & PKD2 GENES BY LINKAGE ANALYSIS AND DETERMINING THE GENOTYPE/PHENOTYPE CORRELATIONS IN SEVERAL IRANIAN FAMILIES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
ABSTRACT Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKDI on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence oflocus heterogeneity for ADPKD in the Iranian populatio...
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ورودعنوان ژورنال:
- British medical journal
دوره 292 6524 شماره
صفحات -
تاریخ انتشار 1986