Genetic fine localization of the β-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease |
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Authors: | B Cormand Magda Montfort Amparo Chabás Lluïsa Vilageliu D Grinberg |
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Institution: | (1) Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 645, E-08071 Barcelona, Spain Tel.: +34-3-402-1501; Fax: +34-3-411-0969 e-mail: danielr@porthos.bio.ub.es, ES;(2) Institut de Bioquímica Clínica, Corporació Sanitaria Clínic, Mejia Lequerica s/n, Edificio Helios III E-08028 Barcelona, Spain, ES |
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Abstract: | Mutations in the glucocerebrosidase (GBA) and prosaposin (PSAP) genes are responsible for Gaucher disease, the most prevalent sphingolipidosis. Somatic cell hybrid analysis and in situ
hybridization experiments have localized the GBA gene to 1q21 and the PSAP gene to 10q21-q22. We performed pairwise and multi-point linkage analyses between the two genes and several highly polymorphic
markers from the Généthon human linkage map. Our results show that six markers cosegregate with the GBA gene (Zmax = 8.73 at θ = 0.00 for marker D1S2714) and define a 3.2-cM interval between D1S305 and D1S2624 as the most probable location
for the gene. Three of these markers (D1S2777, D1S303, and D1S2140), as well as the gene encoding pyruvate kinase (PKLR), are contained in a single YAC clone together with the GBA gene. A new polymorphism was identified within the PSAP gene (C16045T) and used for linkage studies. The multi-point analysis places the gene in a 9.8-cM interval between D10S1688
and D10S607. The fine localization of these genes provides a useful tool for cosegregation analysis, indirect molecular diagnosis,
and population genetic studies.
Received: 22 October 1996 / Accepted: 4 February 1997 |
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