Linkage Disequilibrium Between IDUA kpnI-VNTR Haplotype in Mexican Patients with MPS-I

The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms. KpnI (K) and VNTR (V) intragenic p...

Full description

Saved in:
Bibliographic Details
Published in:Archives of medical research 1999-09, Vol.30 (5), p.375-379
Main Authors: Gallegos-Arreola, Martha, Rivas-Solis, Fernando, Flores-Martı́nez, Silvia, Zúñiga-González, Guillermo, Sandoval-Ramı́rez, Lucila, Cantú-Garza, Jóse Marı́a, Ranaji, Chakraborty, Figuera, Luis, Morán-Moguel, Marı́a Cristina, Corona, José Sánchez
Format: Article
Language:English
Subjects:
Base Sequence
Deoxyribonucleases, Type II Site-Specific
DNA Primers
Gene frequency
Haplotypes
IDUA
Kpn I
Linkage Disequilibrium
Mexico
Minisatellite Repeats
MPS-I
Mucopolysaccharidosis I - ethnology
Mucopolysaccharidosis I - genetics
VNTR
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase α-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms. KpnI (K) and VNTR (V) intragenic polymorphisms at the IDUA gene were studied in mestizo and Huichol Indian Mexican populations as well in 13 MPS-I patients. Data from Australian normal and MPS-I (2–4) individuals were also studied. Genotypes for IDUA K and V sites in Mexicans were in agreement with Hardy-Weinberg expectations, except for site K in Huichols. Individually, allele frequency distributions were different ( p
ISSN:0188-4409
1873-5487
DOI:10.1016/S0188-0128(99)00049-4