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Órgano oficial de la Facultad de Odontología, UNAM

2018, Number 3

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Rev Odont Mex 2018; 22 (3)

Determination of frequency of SNP’s in a population of mixed genetic origin and its use as genetic markers for association studies in cases of not syndromic cleft lip and palate

Lloret RMFJ, Terán AA, Sotomayor VV, Ortega RG, Martínez LLG, Valenzuela MR, Hernández MMJ, Lloret SA

Language: Spanish
References: 27
Page: 154-159
PDF size: 301.68 Kb.


ABSTRACT

The cleft lip and palate is one of the congenital pathologies with greater prevalence in the world. In the present work, there is an analysis of 12 SNP's located in genomic sequences of ABCA4, BMP4, MSX1, SUMO1, VAX1 andIRF6, under an epidemiological perspective, molecular genetics, genomics and population genetics. All of the above applied to a population of Queretaro, Mexico, of mixed genetic origin. Material and methods: A study was conducted of observation, analytic and descriptive study with samples from 93 triads (study subjects and their parents). When you select SNP's that can be differentiated by RFLP (Restriction Fragment Length Polymorphism)we hope to distinguish between genetic markers that: 1)comply with the equation of balance of Hardy-Weiner and 2) Validate them as potential genetic markers to be used in studies of association in closed populations of genetic origin mixed with cleft lip and palate in Amealco, Queretaro, Mexico. If so subsequently raises test the frequencies obtained with a selected population genetically closed in Amealco, Queretaro. Results: After performing the RFLP analysis of 12 SNP's located in the sequence of genes ABCA4, BMP4, MSX1, SUMO1, VAX1 and IRF6, we find the same allele for SNP analyzed which is located in the 100% of the population. Conclusion: Of the 12 SNP's analyzed in this report, for the first time 5 of them are mentioned their frequency. The rest of them had the same frequency reported in the literature. Although the SNP's selected were not useful as a genetic markers due to the same allele is present in 100% of the general population. The fact of having found in the same genotype of all samples indicates that the population of the city of Queretaro is genetically closed and on the basis of this extremely useful for future validations of other SNP's as potential genetic markers.


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