Please use this identifier to cite or link to this item: http://nopr.niscair.res.in/handle/123456789/14325
Title: <span style="font-size:15.0pt;font-family: "Times New Roman";mso-fareast-font-family:"Times New Roman";mso-ansi-language: EN-GB;mso-fareast-language:EN-US;mso-bidi-language:HI" lang="EN-GB">Effect of ANXA2 gene single nucleotide polymorphism (SNP) on the development of osteonecrosis in Indian sickle cell patient: A PCR-RFLP approach</span>
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: <span style="font-size:11.0pt;font-family: " times="" new="" roman";mso-fareast-font-family:"times="" roman";mso-bidi-font-family:="" mangal;mso-ansi-language:en-gb;mso-fareast-language:en-us;mso-bidi-language:="" hi;mso-bidi-font-weight:bold"="" lang="EN-GB">Osteonecrosis is a serious complication in sickle cell patients.<b> </b>The common sites of the necrosis are<b> </b><span style="font-size:11.0pt;font-family:" times="" new="" roman";mso-fareast-font-family:="" "times="" roman";mso-bidi-font-family:advtt3713a231;mso-ansi-language:en-gb;="" mso-fareast-language:en-us;mso-bidi-language:hi"="" lang="EN-GB">femoral head, head of the humerus and acetabulam<span style="font-size:11.0pt; font-family:" times="" new="" roman";mso-fareast-font-family:"times="" roman";="" mso-bidi-font-family:mangal;mso-ansi-language:en-gb;mso-fareast-language:en-us;="" mso-bidi-language:hi;mso-bidi-font-weight:bold"="" lang="EN-GB">.<span style="font-size:11.0pt;font-family:" times="" new="" roman";mso-fareast-font-family:="" "times="" roman";mso-bidi-font-family:mangal;mso-ansi-language:en-gb;="" mso-fareast-language:en-us;mso-bidi-language:hi"="" lang="EN-GB"> Annexin A2 (<span style="mso-bidi-font-weight:bold">ANXA2) protein mainly functions in bone formation and bone resorption. Alteration of <i style="mso-bidi-font-style:normal">ANX</i><i style="mso-bidi-font-style:normal">A2 </i>gene may affect the manifestations of<span style="mso-bidi-font-weight:bold"> 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 <i style="mso-bidi-font-style:normal">ANX</i><i style="mso-bidi-font-style:normal">A2</i> gene single nucleotide polymorphism frequency and their clinical association among Indian sickle cell patients. Five known SNPs of <i style="mso-bidi-font-style: normal">ANX</i><i style="mso-bidi-font-style:normal">A2</i> gene (rs7170178, rs73435133, rs73418020, rs72746635 and<b> </b>rs73418025) were determined using the HpyCH4V, DdeI, HpyCH4III and Sau 961 restriction enzyme respectively. Restriction enzyme DdeI was common for rs73435133 and rs72746635 SNP<span style="font-size:11.0pt; font-family:" times="" new="" roman";mso-fareast-font-family:"times="" roman";="" mso-ansi-language:en-gb;mso-fareast-language:en-us;mso-bidi-language:hi"="" lang="EN-GB">. Only the <span style="font-size:11.0pt;font-family:" times="" new="" roman";="" mso-fareast-font-family:"times="" roman";mso-bidi-font-family:mangal;="" mso-ansi-language:en-gb;mso-fareast-language:en-us;mso-bidi-language:hi"="" lang="EN-GB">rs7170178 SNP was detected among patient and control and the other four SNPs were absent in the studied groups. The frequency of<i style="mso-bidi-font-style:normal"> ANXA2</i> 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.</span></span></span></span></span></span></span></span>
Description: 455-458
URI: http://hdl.handle.net/123456789/14325
ISSN: 0975-1009 (Online); 0019-5189 (Print)
Appears in Collections:IJEB Vol.50(07) [July 2012]

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