Human-Specific Alu Insertion/Deletion Polymorphisms in Gujjar Population of Jammu Region of (J and K) State

Rakesh Kumar Panjaliya, Parvinder Kumar, Vikas Dogra and Subash Gupta


Institute of Human Genetics, University of Jammu, Jammu Tawi - 180 006 India.

Abstract:

human populations are polymorphic with respect to insertion/deletion to alu elements, the short interspersed elements (SINEs) found in about 500 000 copies in multiple chromosomal locations of human genome. During present study four Alu insertion/deletion polymorphisms (Alu ACE, Alu APO, Alu PV-92, Alu plat) were studied in Gujjar population of Jammu region of j&k state. Blood samples of 50 unrelated healthy donors constituted the material for the present study. DNA was isolated and amplified by PCR using target specific Oligonucleotide primers and finally subjected to Agarose gel electrophoresis. All the four markers showed high insertion frequencies and high Heterozygosities values. The agreement with hardy-weinberg equilibrium was evaluated by chi-square test for goodness of fit for the differences between the observed frequencies and the expected frequencies. Two markers (Alu apo and Alu PV92) showed significant differences between the observed frequencies and the expected frequencies which can be attributed to small sample size. In near future this study may assist in the study of genomic diversity of other populations of the region.

Keywords: SINEs; Alu; polymorphism; retroposition; genome; heterozygosity; insertion deletion

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