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Polymorphism in MCM6-Gene Associated with Lactose Non-Persistence in Pakistani Patients

Polymorphism in MCM6-Gene Associated with Lactose Non-Persistence in Pakistani Patients

Maria Qibtia1, Sehrish Faryal1, Muhammad Wasim1, Farzana Chowdhary1, Muhammad Tayyab1, Ahmed Mansovuri2, Zeeshan Ahmed2, Muhammad Hamid3 and Ali Raza Awan1,*

1Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, 54000 Lahore, Pakistan
2Max-Planck Institute for Biophysical Chemistry Molecular Cell Differentiation Group, Am Fassberg 11, 37077 Göttingen, Germany
3University of Ulm, Energiewandlung und-speicherung, Albert-Einstein-Allee 47, 89081 Ulm, Germany
* Corresponding author:


Lactose persistence (LP) is a genetically determined phenotypic trait, generally related to pastoralism and milk consumption. However, Lactose non-persistence (LNP) results from the progressive decline of Lactase-phlorizin hydrolase (LPH) activity in enterocytes. The Single Nucleotide Polymorphism (SNPs) associated with occurrence of LP/LNP are different for European, Asian, African-American, Northern African and Arab populations. In this study, we studied, the association of these SNPs with LNP in Pakistani patients. Our analysis has evaluated the association between the development of LNP trait and two common variants in intron 13 and 9 (13910-C/T and 22018-G/A) along with the P-value significance level. Therefore in this study, we aimed to access genetic predisposition and clinical manifestations of LNP and LP in 80 subjects (30 subjects with LP and 50 LNP). The presence of T-13910, C-13913, G-13915, G-13907, C-3712, C-13779, A-13937, G-14009, C-14010, T-14011, T-14044, T-14091, A-14107, C-14176, A-14156 and A-22018 polymorphic variants in MCM6-gene were also accessed as reported in different populations. Genomic DNA was extracted from peripheral blood. Consequently, SNPs were analyzed with the PCR-sequencing method. The statistical analysis was performed in SPSS using the method of chi-square test. All the SNPs were evaluated for the association of polymorphism. In the current study 20 out of 30 LP subjects were presented with the following SNPs: C/T-13910 (intron 13) and G/A-22018 (intron 9), representing a frequency level of 0.67 for association. Similar to this frequency of 0.22 and 0.44 was also found in LNP patients. All the SNPs were heterozygous in LP subjects, and for the particular SNP: G/A-22018 (intron 9) 22% heterozygosity was also shown in LNP subjects. This is the first report of SNP in MCM-6 gene studied in Pakistani patients. It may help in better understanding of different diseases having underlying cause related to lactose intolerance.

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Pakistan Journal of Zoology


Vol. 54, Iss. 6, Pages 2501-3000


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