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Identification of Novel Mutations in LCT-Gene of Pakistani Patients with Lactose Non-persistence

Identification of Novel Mutations in LCT-Gene of Pakistani Patients with Lactose Non-persistence

Maria Qibtia1, Muhammad Wasim1, Farzana Chowdhary1, Muhammad Tayyab1, Sehrish Faryal1, Ahmed Mansouri2, Zeeshan Ahmad2, Muhammad Hamid3 and Ali Raza Awan1,*

1Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Shaykh Abdul Qadir Jilani Road, Data Gunj Buksh Town, 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 non-persistence (LNP) develops due to the downregulation of the lactase-phlorizin hydrolase (LPH) enzyme. LPH is encoded by the LCT-gene located on chromosome 2q21. In this study, 50 patients with LI were investigated for the identification of mutations in the LCT-gene. In comparison of 30 subject with lactose persistence (LP) considered as healthy group. A total of 13 genomic mutations were identified, 1 in the promoter region and 12 in the intronic/exonic region of LCT-gene. Among these 12 mutations, 6 of them are novel in origin. The novel mutations were found in intron 4 c.(918+116)A>C, intron 12 c.(4877+20)G>A, intron 15 c.(5346+35)T>C, UTR of exon 17 (c.5865C>T), exon 6 c.1147A>G and c. 1095A>G. Four mutations resulted in an altered amino acid sequence. The frequency of each mutation observed in both gruops was: mutation I of exon 1 (0.64/1), mutation II of exon 2 (0.34/0.67), mutation III, IV and V of exon 6 (1/1,0.12/0,0.64/1) mutation VI of exon 13 (0.64/1), mutation VII, VIII, IX of exon 17 (0.64/1, 1/1, 0.12/0), mutation X of intron 4 (0/1), mutation XI of intron 12 (1/0), mutation XII of intron 15 (1/1) and mutation XIII of promoter region (0.36/0.67). In this study, molecular identification and screening in LNP subjects provide the mutational variants of the LCT-gene in the region of Pakistan. This is a major step in clinical management and accurate genetic counseling of the pre-symptomatic diagnosis of LNP. Among the six novel mutations found, mutation XI was found in all of the LNP subjects and was absent in the lactose persistent group. This study, for the first time, focuses on molecular analysis of LCT-gene from Pakistani patients with LNP.

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Pakistan Journal of Zoology


Pakistan J. Zool., Vol. 56, Iss. 4, pp. 1501-2000


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