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.