Analysis and identification of a novel CD36 allele, 1142 T>G
10.3969/j.issn.2095-4344.2015.50.026
- VernacularTitle:血小板CD36新等位基因1142T>G序列分析及确认
- Author:
Fengqiu LIN
;
Xiaofeng LI
;
Chaopeng SHAO
;
Jianping LI
- Publication Type:Journal Article
- Keywords:
DNA Mutational Analysis;
Aleles;
Sequence Analysis
- From:
Chinese Journal of Tissue Engineering Research
2015;(50):8184-8189
- CountryChina
- Language:Chinese
-
Abstract:
BACKGROUND:As a main antigen of platelet, CD36 antigen is also known as platelet glycoprotein IV (GPIV). The mutation of CD36 gene may result in deficiency of the antigen.
OBJECTIVE:To identify a novel CD36 alele.
METHODS: DNA was isolated from peripheral blood sample, and 12 coding regions of CD36 gene were amplified by PCR. Sequencing-based typing was used to analyze the sequence of the target regions. The derived sequences were aligned with the standard sequence of NG_008192 in GenBank to identify the novel alele.
RESULTS AND CONCLUSION: 1142 T>G mutation was detected in exon 12 of CD36 gene of the proband, and the other regions were consistent with the standard sequence. No data or report about 1142 T>G was found in GenBank or National Center for Biotechnology Information (NCBI), and thus it was reported to GenBank and received by number KM275213. 1142 T>G results in amino acid 381 Leu>Ser of the CD36 protein. There is a big difference in hydrophilia and polarity of the two amino acids. Also the 381 amino acid locates in highly conserved region. Thus it is speculated that 1142 T>G may reduce or vanish the activity of the protein.
