Distribution of three SNPs related to low bone mineral density in Amerindian groups and Mestizos from Mexico.

OBJECTIVES: Some Single nucleotide polymorphisms (SNPs) of several candidate genes have been associated with low bone mineral density (BMD) and fracture risk. As the genetic variability of such SNPs in Hispanic and Native American populations is scarce, we analyzed the three SNPs that have been related with bone mass disorders (Sp1, A163G, and BsmI) located in the genes of Type I Collagen (COL1A1), Osteoprotegerin (OPG), and Vitamin D receptor (VDR) in Mexican Mestizos (people resulting from post-Columbian admixture) and five Amerindian populations. METHODS: We genotyped these three SNPs by Polymerase chain reaction (PCR) and Restriction fragment length polymorphisms (RFLPs) in 523 individuals from five Mexican Amerindian groups (Nahua, Maya, Purépecha, Tarahumara, and Huichol) and 227 western Mestizos (Jalisco state). RESULTS: The modal allele was the same in all the six populations for Sp1-COL1A1 (S > 77%), A163G-OPG (A > 80%), and BsmI-VDR (b > 62%). Genotype distribution was in Hardy-Weinberg equilibrium in all SNPs/populations, excepting Sp1-COL1A1 in the Purépecha group and BsmI-VDR in Mestizo. In terms of the presumably Sp1-COL1A1 risk allele to low BMD (allele "s"), the Purépecha group showed the highest allele (23%) and homozygous (14.5%) frequencies. If the role of this allele as a genetic predisposing factor to low BMD were confirmed, this would mean increased susceptibility of Purépechas with regard to Europeans (14.5 vs. 6.8%). CONCLUSIONS: This finding presumably could influence the genetic susceptibility to low BMD in Purépechas. For the SNPs, BsmI-VDR and A163G-OPG, relative homogeneity was observed among the Mexican populations analyzed here.

Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara.

Fragile X syndrome is the most common cause of inherited mental retardation; it is caused by expansion of CGG repeats in the first exon of the FMR1 gene. The number of CGG repeats varies between 6 and 50 triplets in normal individuals; the most common alleles have 29 or 30 repeats. Allelic patterns in the global populations are similar; however; some reports show statistical differences among several populations. In Mexico, except by a single report on a western Mestizo population, the allelic frequencies of the FMR1 gene are unknown. In this study, we analyze 207, 140, 138, and 40 chromosomes from Mestizos, Tarahumaras, Huichols, and Purepechas respectively. After PCR amplification on DNA modified by sodium bisulfite treatment, molecular analysis of the FMR1 gene showed 30 different alleles among the 525 chromosomes evaluated. Trinucleotide repeat number in the different Mexican populations varied from 15 to 87, with modal numbers of 32 and 30 in Mestizos and Tarahumaras, 29 and 32 in Purepechas and 30 among Huichols. Together, these allelic patterns differ significantly from those reported for Caucasian, Chinese, African, Indonesian, Brazilian, and Chilean populations. The increased number of the unusual allele of 32 repeats observed in the Mexican mestizo population can be explained from its frequency in at least two Mexican native populations.

Characterization of mtDNA haplogroups in 14 Mexican indigenous populations.

In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population.

PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: limits and utility.

A group of mutations characterized by trinucleotide repeat expansion causes human diseases such as the Fragile X syndrome, Huntington disease (HD), and myotonic dystrophy. Methods based on PCR amplification of the CGG and CAG repeats region could facilitate the development of a rapid screening assay; unfortunately, amplification across CGG and CAG repeats can be inefficient and unreliable due to the G + C base composition. The utility of the PCR on modified DNA for amplification of the CGG and CAG repeats at the Fragile X syndrome and HD has been reported. In the present study, we analyzed the utility of PCR on modified DNA as a rapid screening method for diagnosis of patients with Fragile X syndrome and HD. A comparative analysis realized with 38 Fragile X and 29 HD patients showed that the molecular diagnosis by simple PCR on modified DNA has a sensitivity and specificity of 100% in Fragile X patients and 94.1% and 91.6% in HD patients. The results achieved from the statistical analysis allowed us to conclude that the amplification by simple PCR on modified DNA is a reliable and useful method for the molecular diagnosis of the Fragile X syndrome, but not for the HD.

HLA class II haplotypes in Mexican systemic lupus erythematosus patients.

Systemic lupus erythematosus (SLE) is an autoimmune disease in which polymorphisms within the human leukocyte antigen (HLA) region have been associated to its etiology. For this study, HLA-DQB1, DQA1, and DRB1 genes were typed by polymerase chain reaction-sequence-specific primer in 237 individuals, taken from 74 families, who had a member with SLE, and who had their residence in the western region of Mexico; as well as in 159 ethnically matched healthy volunteers taken from 32 families. Genotype and allele frequency analysis was performed in 74 SLE patients and 54 unrelated controls. Precise three-loci identification of independent haplotypes was performed in 48 patients and 54 controls by familial segregation. Genotype distribution at each loci was concordant with Hardy-Weinberg's equilibrium in the control group. In general, no genotype effect was observed in SLE patients. Allele distribution comparison showed in the SLE group a significant increase of HLA-DQA1*0102, DQB1*0402, and DRB1*15; whereas alleles HLA-DQB1*0303 and *0501 were significantly decreased. SLE patients showed haplotype DQB1*0602-DQA1-*0102-DRB1*15 increased. As expected, patients with SLE have a reduced haplotype genetic diversity. The associations found in this study are related to an ancestral haplotype that has been observed in SLE populations of different origins.

[Exclusive breastfeeding among working women with free daycare available at workplace]. / Aleitamento materno exclusivo entre trabalhadoras com creche no local de trabalho.

OBJECTIVE: To investigate factors related to the decision of exclusive breastfeeding, and the planned and the actual duration among working women with free daycare available at workplace. METHODS: A qualitative study was conducted comparing a group of 15 women exclusively breastfeeding their babies with a similar group of women whose babies were already being fed with other food besides maternal milk at the time they started attending a daycare center. Semi-structured interviews and focus groups were carried out for data collection. RESULTS: The factors related to the decision of breastfeeding and maintaining it when women went back to work were: the desire to breastfeed based on the importance women of both groups as well as their husbands and significant others attributed to it. The duration of exclusive breastfeeding was mainly associated to the baby's pediatrician counseling, which differed in each group. CONCLUSIONS: The availability of free daycare center at the work place seems an important aspect to breastfeeding maintenance after women go back to work, especially regarding exclusive breastfeeding. The duration of exclusive breastfeeding was related to the information received before and during pregnancy, and also in the postpartum. Women who have exclusively breastfed for almost six months believed the longer they breastfeed the better to their babies' health, while other women believed that three months of exclusive breastfeeding would be enough.

Aleitamento materno exclusivo entre trabalhadoras com creche no local de trabalho / Exclusive breastfeeding among working women with free daycare available at workplace

OBJETIVO: Investigar os fatores relacionados à decisão das mulheres em amamentar e a duração planejada e, de fato observada, do aleitamento exclusivo entre trabalhadoras que dispõem de creche na empresa. MÉTODOS: Estudo qualitativo no qual se comparou um grupo de 15 trabalhadoras cujos bebês estavam sendo alimentados apenas com leite materno quando começaram a freqüentar a creche da empresa com outro similar que incluía mulheres cujos bebês que, ao ingressar, já estavam recebendo, além do leite materno, outros alimentos. Foram realizadas entrevistas semi-estruturadas e grupos focais. RESULTADOS: Evidenciaram-se como fatores relacionados à decisão de iniciar a amamentação e mantê-la ao retornar ao trabalho: o desejo de amamentar, embasado no valor que as mulheres dos dois grupos atribuíam ao aleitamento materno, bem como seus maridos e outras pessoas significativas (por exemplo: mãe, irmã, amigas). A duração do aleitamento exclusivo relacionou-se principalmente à orientação do pediatra que cuidava do bebê, que foi distinta em cada um dos grupos estudados. CONCLUSAO: A existência da creche no local de trabalho aparece como elemento relevante para a manutenção do aleitamento após a licença de maternidade, especialmente o materno exclusivo. A decisão sobre quanto tempo amamentar de forma exclusiva esteve relacionada às informações recebidas acerca do assunto antes e durante a gestação, e no pós-parto. A diferença entre os dois grupos estudados foi que as mulheres que mantiveram o aleitamento exclusivo por quase seis meses acreditavam que quanto mais tempo dessem somente o leite materno, mais benefícios o bebê teria, enquanto as mulheres do outro grupo acreditavam que três meses de aleitamento exclusivo eram suficientes.

Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.

Screening for mutations at the G-6-PD gene by PCR-SSCP combined with restriction enzyme analysis and DNA sequencing was performed in nine G-6-PD deficient individuals with negative results for the presence of the most frequent G-6-PD mutations previously observed in Mexican population. The variants G-6-PD Valladolid(406T), G-6-PD Durham(713G), and G-6-PD Viangchan(871A) and four new G-6-PD mutant alleles were identified. The new mutations are located at cDNA nt 376 A --> T (126 Asn --> Tyr), nt 770 G --> T (257 Arg --> Leu), nt 1094 G --> A (365 Arg --> His), and nt 1285 A --> G (429 Lys --> Glu) and they were named G-6-PD San Luis Potosi, G-6-PD Zacatecas, G-6-PD Veracruz, and G-6-PD Yucatán, respectively. To date, a total of 18 different G-6-PD variants have been observed in Mexico and several of them are common in Africa, South Europe, and Southeast Asia.

Aleitamento materno: um direito da mäe e da criança / Breast feediding: a mother's and child's right

Este trabalho propöe-se a fornecer, em primeiro lugar, um breve histórico das leis trabalhistas brasileiras e estrangeiras que visam proteger a mulher assalariada que amamenta seu filho. Em segundo lugar, apresentar as atividades empreendidas pela Universidade Estadual de Campinas na tentativa de estimular o aleitamento materno e cumprir com as respectivas leis vigentes no país. O interesse da UNICAMP pelo aleitamento materno tem-se traduzido: 1) na criaçäo do alojamento conjunto na Maternidade do Hospital de Clínicas, 1975;2) no desenvolvimento de dois programas educativos na mesma Maternidade; e 3) na instalaçäo do Centro de Convivência Infantil, em 1982, para filhos de servidoras da Universidade