PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus

Chew, C.H.; Chua, K.H.; Lian, L.H.; Puah, S.M.; Tan, S.Y. (2008) PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus. Human Biology, 80 (1). pp. 83-93. ISSN 1534-6617

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Abstract

Five types of known mutations within the C1q gene located at C1qA-Gln186 (C > T), C1qB-Gly15 (G > A), C1qB-Arg150 (C > T), C1qC-Gly6 (G > A), and C1qC-Arg41 (C > T) and two SNPs located at C1qA-Gly70 (G/A) and C1qC-Pro14 (T/C) were screened in a multiracial Malaysian population. One hundred thirty patients with systemic lupus erythematosus (SLE) and 130 matched healthy control subjects were genotyped using PCRRFLP methods. We found no occurrence of the five types of mutations in either the homozygous or heterozygous form among the 260 samples studied. Statistical analysis also revealed that there were no significant associations observed in the genotype distributions and allele frequencies among the patients with SLE and healthy control subjects with both C1qA-Gly70 (G/A) and C1qC-Pro14 (T/C) SNPs. Overall, C1q deficiency was not proven as a primary causative genetic predisposition factor for SLE in the Malaysian population.

Item Type: Article
Creators:
  1. Chew, C.H.
  2. Chua, K.H.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
  3. Lian, L.H.
  4. Puah, S.M.
  5. Tan, S.Y.
Journal or Publication Title: Human Biology
Additional Information: Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
Uncontrolled Keywords: C1q deficiency, C1q gene, Malaysian population, mutation, PCR-RFLP method, single nucleotide polymorphism (SNP), systemic lupus erythematosus (SLE)
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms azrahani halim
Date Deposited: 02 Nov 2012 09:17
Last Modified: 02 Nov 2012 09:17
URI: http://eprints.um.edu.my/id/eprint/3842

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