[A genetic study of adult polycystic kidney disease]. 1994

Y Mao, and X Lu, and J Zhang, and Y Gao, and S Wang, and J Zeng, and H Wu, and J Chen, and Z Lin
Nanjing Railway Medical College.

The 3'HVR has been considered as the most useful probe in making the linkage analysis of adult polycystic kidney disease (APKD). We examined three APKD families using this probe. Their polymorphism information was then computed for linkage study using LINKAGE package and computer programme HOMOG for homogeneity test. One family was defined as non PKD 1, because the disease locus was failed to show linkage to the 3'HVR marker. Of the other two families, one can still not be identified as non PKD1, but had distinguishable meiotic recombinations, another was in favour of linkage to 3'HVR and therefore judged to be PKD1. The presence of genetic heterogeneity could significantly reduce the value of linked probe analysis as a tool for gene diagnosis of APKD.

UI MeSH Term Description Entries
D007690 Polycystic Kidney Diseases Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. Kidney, Polycystic,Polycystic Kidney,Polycystic Kidney Disease,Polycystic Kidneys,Polycystic Renal Disease,Disease, Polycystic Kidney,Disease, Polycystic Renal,Diseases, Polycystic Kidney,Diseases, Polycystic Renal,Kidney Disease, Polycystic,Kidney Diseases, Polycystic,Kidneys, Polycystic,Polycystic Renal Diseases,Renal Disease, Polycystic,Renal Diseases, Polycystic
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D005192 Family Health The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. Health, Family
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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