The Open Biology Journal

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Perspectives for Early Genetic Screening of Lactose Intolerance: - 13910C/T Polymorphism Tracking in the MCM6 Gene

The Open Biology Journal, 2010, 3: 66-71

Marta A.S. Arroyo, Ana Cláudia P. Lopes, Vania B. Piatto, José Victor Maniglia

Department of Otorhinolaryngology of Medical School of São José do Rio Preto, (FAMERP), São Paulo, Brazil, Av. Brigadeiro Faria Lima, nº 5416, Vila São Pedro, São José do Rio Preto, SP, Zip Code: 15090-000, Brazil.

Electronic publication date 16/7/2010
[DOI: 10.2174/18741967010030100066]



For many years Lactose intolerance has been, considered as a universal problem in many children and adults.


The aim is to investigate the prevalence of polymorphism -13910C/T, in a neonatal tracking, for early diagnosis of lactose tolerance/intolerance. Materials and Methods: In a cross-sectional study of 310 Brazilian newborns, DNA was extracted from leukocyte umbilical cord and specific primers were used to amplify the region that encloses the -13910C/T polymorphism of the MCM6 gene, using the polymerase chain reaction and the restriction fragment length polymorphism tests.


One hundred and sixty (52%) male newborns and 150 (48%) female new borns were evaluated. Out of these, 191 (62%) presented CC genotype (lactose intolerant), 95 (31%) CT genotype, and 24 (7%) TT genotype, comprising a total of 119 (38%) lactose tolerant newborns. Accordingly the newborns´ gender distribution in relation to the phenotypes has been found; 97 (32%) of male gender and 94 (30%) of female gender lactose intolerant, and 63 (20%) male and 56 (18%) female lactose tolerant newborns, not being such distribution statistically significant (p = 0.801).


The molecular analysis made possible the identification of the presence or absence of lactase persistence variant in the Brazilian newborns. The neonatal molecular diagnosis can optimize the follow-up of positive results in newborn screening for lactose intolerance.

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