scholarly journals Ethno-genetics of AIM1 gene relating to Human Skin Pigmentation among Six Indigenous Nationalities in Nepal

2015 ◽  
Vol 20 (2) ◽  
pp. 90-93
Author(s):  
Nanda Bahadur Singh
Keyword(s):  
Ethnic Groups ◽  
Human Skin ◽  
Skin Pigmentation ◽  
Pcr Amplification ◽  
Specific Pcr ◽  
Allele Specific ◽  
Research Findings ◽  
Skin Coloration ◽  
Allele Specific Pcr ◽  
Ethnic Distribution

This paper attempts to find out allele frequencies of AIM1 gene among six ethnic groups in Nepal by detecting a total number of 456 blood and nail samples through an allele specific PCR amplification. The research findings revealed that the AIM1 codon L374F polymorphism distinctively showed conspicuous ethnic distribution of the two alleles; namely allele “F” was found mostly high (11.4%) in the Caucasoid Chidimar and rarely low (1.1%) in the Dravidian Munda whereas Mongoloid Chepang, Gurung, Raute and Thakali entirely lacked the “F” allele and showed the monomorphic type for the “L” allele. The codon L374F could be the best genetic marker for distinguishing Caucasian populations from Mongoloid ones and would explain the ethno-genomics of human skin coloration among many ethnic groups in the world.Journal of Institute of Science and Technology, 2015, 20(2): 90-93

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

scholarly journals Detection of maternal cells in human fetal blood during the third trimester of pregnancy using allele‐specific PCR amplification

1997 ◽  
Vol 98 (3) ◽  
pp. 767-771 ◽  
Author(s):  
THIERRY PETIT ◽  
MARC DOMMERGUES ◽  
GÉRARD SOCIÉ ◽  
YVES DUMEZ ◽  
ELIANE GLUCKMAN ◽  
...  
Keyword(s):  
Pcr Amplification ◽  
Fetal Blood ◽  
Third Trimester ◽  
The Third ◽  
Specific Pcr ◽  
Allele Specific ◽  
Allele Specific Pcr

scholarly journals Association between miRNA Target Sites and Incidence of Primary Osteoarthritis in Women from Volga-Ural Region of Russia: A Case-Control Study

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1222
Author(s):  
Anton Tyurin ◽  
Daria Shapovalova ◽  
Halida Gantseva ◽  
Valentin Pavlov ◽  
Rita Khusainova
Keyword(s):  
Ethnic Groups ◽  
Mirna Target ◽  
Ural Region ◽  
Specific Pcr ◽  
Target Sites ◽  
Allele Specific ◽  
Polymorphic Variants ◽  
Allele Specific Pcr ◽  
Volga Ural Region ◽  
Control Study

Over the past decades, numerous studies on the genetic markers of osteoarthritis (OA) have been conducted. MiRNA targets sites are a promising new area of research. In this study, we analyzed the polymorphic variants in 3′ UTR regions of COL1A1, COL11A1, ADAMTS5, MMP1, MMP13, SOX9, GDF5, FGF2, FGFR1, and FGFRL1 genes to examine the association between miRNA target site alteration and the incidence of OA in women from the Volga-Ural region of Russia using competitive allele-specific PCR. The T allele of the rs9659030 was associated with generalized OA (OR = 2.0), whereas the C allele of the rs229069 was associated with total OA (OR = 1.43). The T allele of the rs13317 was associated with the total OA (OR = 1.67). After Benjamini-Hochberg correction, only rs13317 remained statistically significant. According to ethnic heterogeneity, associations between the T allele (rs1061237) with OA in women of Russian descent (OR = 1.77), the G allele (rs6854081) in women of Tatar descent (OR = 4.78), the C allele (rs229069) and the T allele (rs73611720) in women of mixed descent and other ethnic groups (OR = 2.25 and OR = 3.02, respectively) were identified. All associations remained statistically significant after Benjamini-Hochberg correction. Together, this study identified miRNA target sites as a genetic marker for the development of OA in various ethnic groups.

scholarly journals Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA)

2006 ◽  
Vol 154 (2) ◽  
pp. 341-348 ◽  
Author(s):  
Maria Rosaria Sapio ◽  
Daniela Posca ◽  
Giancarlo Troncone ◽  
Guido Pettinato ◽  
Lucio Palombini ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Braf Mutation ◽  
Mutant Allele ◽  
Pcr Amplification ◽  
Follicular Variant ◽  
Direct Dna Sequencing ◽  
Specific Pcr ◽  
Pcr Products ◽  
Allele Specific ◽  
Allele Specific Pcr

Objective: The somatic point mutation in the BRAF gene, which results in a valine-to-glutamate substitution at residue 600 (BRAFV600E), is an ideal hallmark of papillary thyroid carcinoma (PTC). However, its prevalence is varyingly reported in different studies, and its expression in the follicular variant PTC is controversial, reducing its potential usefulness as diagnostic marker. Design and methods: We developed an assay based on mutant allele-specific PCR amplification (MASA) to detect BRAF mutation. We compared the sensitivity of MASA, single-strand conformation polymorphism (SSCP) and direct DNA sequencing of PCR products. Then, we used MASA 78 to analyze 78 archival thyroid tissues, including normal samples, follicular adenomas, follicular carcinomas and PTC. Results: The MASA assay proved to be a more sensitive method than SSCP and DNA sequencing of PCR products. BRAF mutation was found by MASA in 19/43 (44.2%) of PTC, including 14/31 (45.2%) classic forms and 5/12 (41.7%) follicular variants. No mutations of BRAF were detected in the normal thyroid tissues, nor in follicular adenomas or follicular carcinomas. No correlation was found between BRAF mutation and clinicopathologic features nor with recurrence during a postoperative follow-up period of 4–11 years. BRAFV600E significantly correlated with absence of node metastasis. Conclusions: BRAFV600E is present in PTC, both in the classic form and in follicular variant with similar prevalence. No correlation was found between BRAF mutation and aggressive clinical behavior. MASA-PCR proved to be a specific, sensitive and reliable method to detect BRAF T1799A in DNA extracted from different sources, including cytologic samples obtained either fresh or from archival glass slides. We propose this method as a useful tool to improve accuracy of preoperative diagnosis identifying PTC from biopsies with indeterminate cytologic findings.

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