Abstract
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.
Highlights
For many years Lactose intolerance has been, considered as a universal problem in many children and adults
This study aimed at investigating the prevalence of 13910C/T polymorphism in a neonatal screening, for an early diagnose of lactase tolerance/intolerance in order to provide adequate specific therapeutic measures
It rarely poses a threat to life, the symptoms of lactose intolerance can lead to a significant discomfort, worsening of life quality, school difficulties, interruption of entertaining or sports activities, being absent from work, all of these with an individual, family and social cost [2]
Summary
For many years Lactose intolerance has been, considered as a universal problem in many children and adults. 70% of the world population has lactase primary deficiency. This percentage varies according to ethnicity and is related to the use of dairy products in the diet, resulting in the genetic selection of individuals with the ability to digest lactose. According to the anthropologic studies, people with high prevalence of adult lactose malabsorption are those, who have agricultural and hunting tradition and who never drank milk or who started taking it only a few thousand year ago, but as fermented dairy products and, poor in lactose [14]. Primary deficiency prevalence is from 50% to 80% in the Hispanic population, 60% to 80% in Negroids, mainly Africans from Hamite origin, and Ashkenazi Jewish people and almost 100% in the Americans and Asian Indians, besides the Eskimos.
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