ArticleAmerican journal of human genetics2000
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 43 citations in OpenAlex.
- Roles of ribosomal RNA in health and disease.Frontiers in RNA research · 2023Article
- Early predictors of unfavourable outcome in progressive cholestasis of northwestern Quebec.Canadian liver journal · 2022Article
- Copper Metabolism of Newborns Is Adapted to Milk Ceruloplasmin as a Nutritive Source of Copper: Overview of the Current Data.Nutrients · 2018Review
- Probing the mechanisms underlying human diseases in making ribosomes.Biochemical Society transactions · 2016Review
- Ribosomopathies: Global process, tissue specific defects.Rare diseases (Austin, Tex.) · 2015Review
- Human diseases of the SSU processome.Biochimica et biophysica acta · 2014Review
- Article
- NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.PLoS genetics · 2012Article
- When ribosomes go bad: diseases of ribosome biogenesis.Molecular bioSystems · 2010Review
- Genetics of familial intrahepatic cholestasis syndromes.Journal of medical genetics · 2005Review
- Animal models of copper-associated liver disease.Comparative hepatology · 2003Article
- A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.American journal of human genetics · 2002Article
- A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.American journal of human genetics · 2001Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec. The pattern of transmission is consistent with an autosomal recessive mode of inheritance. To map the NAIC locus, we performed a genomewide scan on three DNA pools of samples from 13 patients, 16 unaffected siblings, and 22 parents from five families. Analysis of 333 highly polymorphic markers revealed 3 markers with apparent excess allele sharing among affected individuals. Additional mapping identified a chromosome 16q segment shared by all affected individuals. When the program FASTLINK/LINKAGE was used and a completely penetrant autosomal recessive mode of inheritance was assumed, a maximum LOD score of 4.44 was observed for a recombination fraction of 0, with marker D16S3067. A five-marker haplotype (D16S3067, D16S752, D16S2624, D16S3025, and D16S3106) spanning 4.9 cM was shared by all patients. These results provide significant evidence of linkage for a candidate gene on chromosome 16q22.
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