Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

Autor:	Christine E. Seidman, B N La Du, J J Cerda, Jonathan G. Seidman, Y.-H. Chou, Martin R. Pollak, Beat Steinmann
Rok vydání:	1993
Předmět:	Genetics Centimorgan Ochronosis Chromosome 3 Genetic linkage Inborn error of metabolism medicine Chromosome Biology medicine.disease Disease gene identification Alkaptonuria
Zdroj:	Nature Genetics. 5:201-204
ISSN:	1546-1718 1061-4036
DOI:	10.1038/ng1093-201
Popis:	Alkaptonuria, the first human disorder recognized by Garrod as an inborn error of metabolism, is a rare recessive condition that darkens urine and causes a debilitating arthritis termed ochronosis. We have studied two families with consanguineous parents and four affected children in order to map the gene responsible for alkaptonuria. Coinheritance of either neonatal severe hyperparathyroidism or sucrase-isomaltase deficiency and alkaptonuria provided a candidate location for the mutated genes on chromosome 3. Homozygosity mapping with polymorphic loci identified a 16 centiMorgan region on chromosome 3q2 that contains the alkaptonuria gene. Analysis of two additional nonconsanguineous families supports linkage of alkaptonuria to this single locus (combined lod score = 4.3, theta = 0).
Databáze:	OpenAIRE
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