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IJEB Vol.50 [2012] >
IJEB Vol.50(07) [July 2012] >
| Title: | Effect of ANXA2 gene single nucleotide polymorphism (SNP) on the development of osteonecrosis in Indian sickle cell patient: A PCR-RFLP approach |
| Authors: | Pandey, Sanjay
Ranjan, Ravi
Pandey, Sweta
Mishra, Rahasya Mani
Seth, Tulika
Saxena, Renu |
| Keywords: | ANXA2
PCR-RFLP Restriction digestion
SNPs |
| Issue Date: | Jul-2012 |
| Publisher: | NISCAIR-CSIR, India |
| Abstract: | Osteonecrosis is a serious complication in sickle
cell patients. The common sites of the necrosis are femoral head, head of the
humerus and acetabulam. Annexin A2 (ANXA2) protein mainly functions in
bone formation and bone resorption. Alteration of ANXA2 gene may affect the manifestations of osteonecrosis in the patients. PCR-RFLP
is a common applicable technique for the detection of known mutation/polymorphisms.
Here we are presenting application of the PCR-RFLP technique for determination
of the ANXA2 gene single nucleotide polymorphism
frequency and their clinical association among Indian sickle cell patients.
Five known SNPs of ANXA2
gene (rs7170178, rs73435133, rs73418020, rs72746635 and rs73418025) were
determined using the HpyCH4V, DdeI, HpyCH4III and Sau 961 restriction enzyme
respectively. Restriction enzyme DdeI was common for rs73435133 and rs72746635
SNP. Only
the rs7170178
SNP was detected among patient and control and the other four SNPs were absent
in the studied groups. The frequency of
ANXA2 gene rs7170178 SNP (A/G, G/G) was comparatively higher in sickle cell
patients than controls and it was clinically associated with sickle cell
osteonecrosis. The P value of heterozygotes (A/G) and homozygotes (G/G)
genotypes were <0.001 and 0.001 respectively, which were highly significant.
This study established the application of PCR-RFLP
in detection of ANXA2 SNPs in sickle cell patients. |
| Page(s): | 455-458 |
| CC License: |  CC Attribution-Noncommercial-No Derivative Works 2.5 India |
| ISSN: | 0975-1009 (Online); 0019-5189 (Print) |
| Source: | IJEB Vol.50(07) [July 2012]
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