TOBIOJ The Open Biology Journal Open Biol. J. 1874-1967 Bentham Open TOBIOJ-3-66 10.2174/18741967010030100066 Biology Perspectives for Early Genetic Screening of Lactose Intolerance: - 13910C/T Polymorphism Tracking in the MCM6 Gene A.S. Arroyo Marta 1 P. Lopes Ana Cláudia 2 B. Piatto Vania * 1 Victor Maniglia José 1 Department of Otorhinolaryngology of Medical School of São José do Rio Preto (FAMERP), Brazil Department of Morphology of Medical School of São José do Rio Preto (FAMERP), Brazil Address correspondence to this author at the Department of Otorhinolaryngology of Medical School of São José do Rio Preto, (FAMERP), São Paulo, Brazil, Av. Brigadeiro Faria Lima, n˚ 5416, Vila São Pedro, São José do Rio Preto, SP, Zip Code: 15090-000, Brazil; Tel: +55-17-32015747; E-mail: vbpiatto@gmail.com 16 7 2010 2010 3 66 71 23 02 2010 16 03 2010 20 03 2010 © 2010 Arroyo et al. 2010 Marta A.S. Arroyo

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 Introduction:

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

 Objective:

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.

 Results:

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).

Conclusions:

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.

 Keywords Molecular analysis MCM6 gene lactase lactose malabsorption hypolactasy