Refined localization of the pyruvate dehydrogenase E1α gene (PDHA1) by linkage analysis |
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| Authors: | A D Børglum Tracey Flint Lise Lotte Hansen T A Kruse |
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| Institution: | (1) Institute of Human Genetics and Danish Centre for Human Genome Research, The Bartholin Building, Aarhus University, DK-8000 Aarhus C, Denmark Tel:. +45 89 421680; Fax: +45 86 123173, DK |
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| Abstract: | Pyruvate dehydrogenase (PDH) E1α is a key component in the PDH complex which catalyzes the oxidative decarboxylation of pyruvate
to acetyl-CoA. Defects in the gene coding for PDH E1α (PDHA1) are associated with a variety of clinical symptoms, often of
a severe character. In the present study, the segregation of three polymorphic CA repeats located in PDHA1 was followed in
the 40 CEPH reference pedigrees. Using these data, multipoint linkage analysis was carried out, refining the genetic location
of PDHA1. The 16-point map presented locates PDHA1 in an approximately 3-cM interval between DXS999 and DXS365 with odds of
more than 1000 : 1. From known physical localizations of the flanking marker loci, PDHA1 could be regionally assigned to Xp22.1-p22.2.
The information provided should be of value in clinical settings.
Received: 10 May 1996 |
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