Estructura y mezcla genética de las poblaciones mestizas del noreste de México mediante el uso de marcadores moleculares autosómicos, mitocondriales y del cromosoma "Y"

Se considera que los primeros pobladores del Continente Americano fueron ancestros asiáticos que cruzaron el estrecho de Bering, entrando en Alaska mucho antes del final de la glaciación Würm-Wisconsin, en una fecha que oscila entre los 15,000 y los 40,000 años, según los diferentes cálculos (Serrano-Sánchez, 1993). La fecha que marcó el inicio del proceso de mezcla, que desembocó en el estada actual de los grupos humanos, se ha fijado en el año 1492, ya que lo sucedido durante los dos primeros años, siguientes al viaje del navegante genovés Cristóbal Colón, modeló gran parte de la distribución humana del mundo actual (Coon, 1969)

Epidemiología Genética de la Hipertensión Arterial en el Noreste de México. I. Determinación del Tamaño de Muestra

El propósito del presente estudio fue determinar a partir de un muestreo piloto el número de familias nucleares (progenitores-descendientes) adecuado para realizar un estudio de epidemiología genética de la hipertensión arterial (HTA) en el Noreste de México. Material y métodos: Como muestra piloto, participaron 14 familias. Los cuatro abuelos de los progenitores nacieron en alguno de los cinco estados del Noreste de México. La muestra quedo distribuidas en: Familia I. Ambos progenitores sin HTA (n = 3), Familia II. Un progenitor con HTA y el otro sin HTA (n = 5) y Familia III. Ambos progenitores con HTA (n = 6). La información progenitores-descendientes se recolectó previo consentimiento informado para cada integrante, el cual consistió en 10 variables cuantitativas: edad, presión sistólica, presión diastólica, estatura, peso, glucosa, colesterol, triglicéridos, HDL y LDL. El tamaño de muestra se determino mediante dos procedimientos: 1. Para cada una de las variables cuantitativas de progenitores y descendientes, se determino el tamaño de muestra mediante el paquete MINITAB V15.0 (modulo ANOVA unifactorial) y 2. Para la asociación de los 3 tipos de familias con los tipos de descendientes (con y sin HTA) se hizo una tabla de contingencia de 3x2 mediante el paquete N´Query Advisor v4.0. Resultados: Procedimiento 1. En los progenitores la variable peso dio el mayor tamaño de muestra = 105 (35 por tipo de familia) mientras que en los descendientes la variable estatura dio el mayor tamaño de muestra = 201 (67 por tipo de familia). Los cálculos se hicieron con un valor de significancia (Alfa) de 0.05 y un potencial (1-Beta) del 80%. Procedimiento 2. A partir de la tabla 3x2 se obtuvo un tamaño de efecto (Delta al cuadrado) del 0.1773. La cual sirvió para crear una tabla de tamaño de muestra con valores de significancia del 0.05 al 0.001 y potenciales del 80 al 99%. El número mínimo de familias obtenido fue de 19 (Alfa = 0.05 y 1-Beta = 80%) y el máximo de 67 (Alfa = 0.001 y 1-Beta = 99%). Considerando a la Familia I como el grupo control se encontró una tendencia de mayor riesgo (OR) para las Familias II (3.00) y III (8.57). Conclusión. Consideramos que un tamaño de muestra de 201 familias nucleares (67 por grupo de familia) nos brindara la significancia y representatividad para continuar con el estudio multicentrico y multidisciplinario de la epidemiología genética de la HTA en el Noreste de México

Leptin receptor expression during the progression of endometrial carcinoma is correlated with estrogen and progesterone receptors

Abstract Introduction: The hormone leptin, which is produced in the adipose tissue, may influence tumorigenesis directly via its receptor (Ob-R). Thus, a role for Ob-R in endometrial carcinogenesis has been proposed. However, most studies neither included samples of the entire histological progression of endometrial carcinoma nor examined Ob-R jointly with the estrogen and progesterone receptors (ER and PR, respectively). Material and methods: To determine the fluctuations of Ob-R, ER, and PR during the histological progression of endometrial carcinoma, we assessed their expression via immunohistochemistry (IHC) in six histological types of endometrium (proliferative, secretory, nonatypical and atypical hyperplasia, and endometrioid and nonendometrioid endometrial carcinoma), in which we performed histopathological and digital scoring for the quantification of receptors. Results: We found that Ob-R expression was positively correlated with that of ER and PR (r = 1, p < 0.001; r = 0.943, p < 0.005, respectively), and there was a significant difference in Ob-R expression among proliferative normal endometrium, hyperplasias, and carcinomas, according to their relative digitally scored Ob-R expression (p < 0.001). In addition, we observed that Ob-R expression in the secretory endometrium was more similar to that of carcinomas than to its proliferative counterpart. Conclusions: These results indicate that Ob-R expression fluctuates during endometrial carcinogenesis in correlation with ER and PR, suggesting that Ob-R expression in vivo is highly dependent on estrogen and progesterone activities in the endometrium and on its ER and PR status, as suggested previously by in vitro studies. Key words: Ob-R, endometrial carcinoma, immunohistochemistr

Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico : Short Communication

Glutathione S-transferases (GSTs) are a family of phase II metabolizing enzymes involved in carcinogen detoxification and the metabolism of various bioactive compounds. Several genes that code for these enzymes are polymorphic in an ethnicity-dependent manner, with particular genotypes previously associated with an increased risk of breast cancer. The purpose of this study was to determine the frequencies of polymorphisms in the genes GSTM1, GSTT1, GSTP1, and GSTM3 and to investigate whether an association exists between these genes and breast cancer risk in subjects from northeastern Mexico. Genotypes were determined for 243 women with histologically confirmed breast cancer and 118 control subjects. Gene polymorphisms were analyzed using a DNA microarray. We found an increased breast cancer risk associated with the GSTM1 gene deletion polymorphism (OR = 2.19; 95%CI = 1.50-3.21; P = 0.001). No associations between the GSTT1, GSTP1, and GSTM3 genotypes and neoplasia risk were observed. In conclusion, we determined the genotype distribution of GST polymorphisms in control subjects and breast cancer patients from northeastern Mexico. The GSTM1 null genotype was associated with breast cancer risk. Our findings may be used to individualize breast cancer screening and therapeutic intervention in our population, which displays ethnic characteristics that differentiate it from other populations in Mexico

Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes

Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis is very important to appropriately monitor the comorbidities. The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities. According to our results, the most useful markers for these chromosomal variants were the genes found in the pseudoautosomic regions 1 and 2 (PAR1 and PAR2), because differences in gene dosage (relative quantification) between groups were more evident in SHOX and VAMP7 gene expression. Therefore, we conclude that these markers are useful for early detection in aneuploidies involving sex chromosomes

The phenotype, psychotype and genotype of bruxism

Abstract. Bruxism is a jaw muscle activity that involves physio-pathological, psycho-social, hereditary and genetic factors. The purpose of this study was to determine the associations between self-reported bruxism, anxiety, and neuroticism personality trait with the rs6313 polymorphism in the gene HTR2A. A sample of 171 subjects of both sexes (14-53 years of age) was included. The control group (group 1, n=60) exhibited no signs or symptoms of bruxism. The case group had signs and symptoms of bruxism (n=112) and was subdivided into group 2, bruxism during sleep (n=22); group 3, awake bruxism (n=44); and group 4 combined bruxism (n=46). As diagnostic tools, the Self-Reported Bruxism Questionnaire (SBQ), the Beck Anxiety Inventory (BAI) and the Eysenck Personality Questionnaire Revised-Abbreviated (EPQR-A) were used. HTR2A (rs6313) SNPs were determined by qPCR for all the participants. The packages SPSS, maxLik and EPI-INFO were used for data analysis. The combined bruxism group reported higher scores in bruxism symptoms, mean = 32.21; anxiety symptoms, mean = 14.80; and neuroticism, mean = 3.26. Combined bruxism was associated with a higher degree of neuroticism (OR=15.0; CI 1.52-148.32) and anxiety in grade 3-moderate (OR=3.56; CI 1.27-10.03), and grade 4-severe (OR=8.40; CI 1.45-48.61), as determined using EPISODE computer software. Genotypic homogeneity analysis revealed no significant differences in allele frequency (P=0.612) among the four groups. The population was in Hardy-Weinberg equilibrium (maxLik package). In conclusion, the three instruments confirm traits of bruxism, anxiety and neuroticism in individuals with bruxism. These data were ratified when the sample was divided by genotypic homogeneity. On the other hand, there was no significant difference between the groups in the SNPs rs6313 from the HTR2A gene

Satisfação materna com o cuidado da enfermeira materno-infantil em Campeche, México

OBJECTIVE: Evaluate and compare maternal-satisfaction (global and areas) with maternal-child nursing care (MSMINC) and to explore the relationship of MSMINC with wait time, length of visit, and maternal age and education. METHODS: Cross-sectional descriptive study comprising 213 mothers. Group 1 (n = 84), mothers of children agedEl objetivo de este estudio fue evaluar y comparar la satisfacción materna (global/áreas) con el cuidado de la enfermera materno infantil (MSMINC) y explorar la relación de MSMINC con el tiempo de espera, duración de la visita, edad y educación materna. Se trata de un estudio descriptivo transversal. Participaron 213 madres. Grupo 1, n = 84 madres de niñosOBJETIVO: Avaliar e comparar a satisfação materna (global e áreas) com o cuidado da enfermeira materno-infantil (SMAEMI) e explorar a relação da SMAEMI com o tempo de espera e duração da visita, idade e educação da mãe. MÉTODOS: ESTUdo descritivo-transversal com a participação de 213 mães. Grupo 1, n = 84 mães de criança