| The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. | |
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MedLine Citation:
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PMID: 7726165 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Autosomal recessive polycystic kidney disease (ARPKD) is a one of the most common hereditary renal cystic diseases in children. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life. At present, prenatal diagnosis relies on fetal sonography, which is often imprecise in detecting even the severe form of the disease. Recently, in a cohort of families with mostly milder ARPKD phenotypes, an ARPKD locus was mapped to a 13-cM region of chromosome 6p21-cen. To determine whether severe perinatal ARPKD also maps to chromosome 6p, we have analyzed the segregation of seven microsatellite markers from the ARPKD interval in 22 families with the severe phenotype. In the majority of the affected infants, ARPKD was documented by histopathology. Our data confirm linkage and refine the ARPKD region to a 3.8-cM interval, delimited by the markers D6S465/D6S427/D6S436/D6S272 and D6S466. Taken together, these results suggest that, despite the wide variability in clinical phenotypes, there is a single ARPKD gene. These linkage data and the absence of genetic heterogeneity in all families tested to date have important implications for DNA-based prenatal diagnoses as well as for the isolation of the ARPKD gene. |
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Authors:
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L M Guay-Woodford; G Muecher; S D Hopkins; E D Avner; G G Germino; A P Guillot; J Herrin; R Holleman; D A Irons; W Primack |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 56 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1995 May |
Date Detail:
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Created Date: 1995-05-24 Completed Date: 1995-05-24 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1101-7 Citation Subset: IM |
Affiliation:
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Department of Medicine, University of Albama at Birmingham, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amniocentesis Chromosome Mapping Chromosomes, Human, Pair 6 / genetics* Female Genes, Recessive / genetics* Genetic Counseling Genetic Markers Haplotypes Humans Infant, Newborn Kidney / pathology Linkage (Genetics) Male Pedigree Phenotype Polycystic Kidney, Autosomal Recessive / classification, diagnosis*, genetics* Polymerase Chain Reaction Reproducibility of Results |
| Grant Support | |
ID/Acronym/Agency:
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DK48006/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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