AFLP estimation of the outcrossing rate of Spondias tuberosa (Anacardiaceae), an endemic species to the Brazilian semiarid region / Una estimación AFLP de la tasa de fecundación cruzada de Spondias tuberosa (Anacardiaceae), una especie endémica de la región semiárida de Brasil

The umbu tree (Spondias tuberosa) is one of the most important endemic species to the Brazilian tropical semiarid region. The umbu tree has edible fruits with a peculiar flavor that are consumed in natura or in a semi-industrialized form, such as jams, candies and juices. The majority of endemic species to Brazilian semiarid region have not been studied or sampled to form germ- plasm collections, which increases the risk of losing genetic variability of the adapted species to xerophytic conditions. The aim of this study was to estimate outcrossing rates in S. tuberosa using a multilocus mixed model in order to guide genetic resources and breeding programs of this species. DNA samples were extracted from 92 progenies of umbu trees, which were distributed among 12 families. These trees were planted by seed in 1991 in Petrolina, PE, Brazil. The experimental design was a randomized block, with a total of 42 progenies sampled in three regions. The experimental units were composed by five plants and five replications. The out- crossing rate was estimated by the multilocus model, which is available in the MLTR software, and was based on 17 polymorphic AFLP bands obtained from AAA_CTG and AAA_CTC primer combinations. The observed heterozygotes ranged from 0.147 to 0.499, with a maximum frequency estimated for the AAA_CTC_10 ampli- con. The multilocus outcrossing estimation ( ) was 0.804±0.072, while the single-locus ( ) was 0.841±0.079, which suggests that S. tuberosa is predominantly an outcrossing species. The difference between and was -0.037±0.029, which indicates that biparental inbreeding was nearly absent. The mean inbreeding coefficient or fixation index ( ) among maternal plants was - 0.103±0.045, and the expected was 0.108, which indicates that there was no excess of heterozygotes in the maternal population. The outcrossing estimates obtained in the present study indicate that S. tuberosa is an open-pollinated species. Biometrical models applied to this species should therefore take into account the deviation from random outcrossing to estimate genetic parameters and the constitution of broad germplasm samples to preserve the genetic variability of the species. Outcrossing rates based on AFLP and the mixed-mating model should be applied to other studies of plant species in the Brazilian semiarid region.

El árbol de umbu (Spondias tuberosa) es una de las especies endémicas más importantes de la región semiárida del Brazil. El mismo tiene frutos comestibles con sabor distinto y puede ser consumido fresco o semiindustrializado, como mermeladas y zumos. La mayoría de las especies endémicas de la región semiárida del Brazil no fueron estudiadas o muestreadas para formar colecciones de germoplasma, aumentando el riesgo de pérdida de la variabilidad genética. El objetivo de este trabajo fue estimar las tasas de polinización cruzada en S. tuberosa basada en el modelo multi-locus mixto, con el fin de orientar los recursos genéticos y los programas de mejoramiento de esta especie. Muestras de ADN fueron extraídas de 92 progenies de árboles umbuzeiro, distribuidos en 12 familias, que se establecieron en Petrolina, PE, Brazil, 09º09’ S - 40º22’ W. El diseño experimental fue de bloques al azar con un total de 42 progenies muestreadas en tres regiones. La tasa de fecundación cruzada fue estimada por el modelo multi-locus disponible en el software MLTR, basado en 17 bandas de AFLP polimórficas obtenidas a partir de las combinaciones de cebadores AAA_CTG y AAA_CTC. Los heterocigotos observados oscilaron entre 0.147 y 0.499 con la frecuencia máxima estimada para AAA_CTC 10 amplicón. El valor estimado de cruzamiento multi-locus ( ) fue 0.804±0.072, mientras que el locus de uno-locus ( ) fue 0.841±0.079, lo que sugiere que S. tuberosa es predominantemente una especie de polinización cruzada. La diferencia entre el y fue de -0.037± 0,029, lo que indica que la endogamia bi-parental fue casi inexistente. La media del coeficiente de fijación ( ) entre las plantas maternas fue - 0.103±0.045, mientras que la esperada fue 0.108, lo que indica que no hubo un exceso de heterocigotos en la población materna. Las estimaciones obtenidas en este trabajo indican que S. tuberosa es una especie de polinización cruzada. Los modelos biométricos aplicados a esta especie deben tener en cuenta la desviación del cruce aleatorio para estimar los parámetros genéticos y la formación de grandes muestras para preservar la variabilidad genética de esta especie. La tasa de fecundación cruzada basada en AFLP y el apareamiento mezclado debe ser aplicado a otros estudios de especies de plantas de la región semiárida del Brazil.

Analysis of loss of heterozygsity effect on thyroid tumor with oxyphilia cell locus in familial non medullary thyroid carcinoma in Iranian families.

Material and Methods: 22 nuclear families (78 persons including 12 patients) with papillary and follicular tumors were selected in a period of six months from Milad hospital. Five microsatellite markers (D19S413, D19S391, D19S916, D19S568, D19S865) on 19p13.2 were selected for genetic analysis. Genomic DNAs was extracted; PCR and polyacrylamide gel electrophoresis method were used for variation detection. Results: The results show that 5.4% of the follicular carcinomas and 17.9% of the papillary carcinomas presented LOH at recognition sites. LOH of Papillary carcinoma detected about 13.9% and follicular carcinoma 7.2% in this study. The frequency of informative cases was not similar for each marker: D19S413 (41.1%)[1], D19S391 (12.5%), D19S916 (10.7%), D19S568 (1.8%) and D19S865 (3.6%). Loss of hetrozygosity in D19S413 predicts the relation between variation in this region and the disease. Discussion: Our findings showed an average of 13.9% LOH in FNMTC cases. Among the five major microsatellites, D19S413 was the most informative for LOH analysis of FNMTC.

Fatores de correção para perímetro escrotal ao sobreano para tourinhos mestiços Aberdeen Angus x Nelore / Adjustment factors for scrotal circumference at yearling for crossbred Aberdeen Angus x Nelore young bulls

Obtiveram-se fatores de correção (FC) para o perímetro escrotal ao sobreano (PES) para os efeitos de grupo genético (GG), heterozigose individual (HI), peso ao sobreano (PS) e idade do animal à pesagem de sobreano (IDS), utilizando-se registros de peso corporal e medidas de perímetro escrotal obtidos de 11.662 tourinhos das raças Aberdeen Angus, Nelore e de produtos do cruzamento entre elas, criados nas regiões Sul, Sudeste e Centro-Oeste do Brasil, nascidos entre 1987 e 2001. Os coeficientes de regressão que geraram os FC foram estimados pelo método dos quadrados mínimos, adotando um modelo que incluiu os efeitos de grupo de contemporâneos ao sobreano (GC), GG, heterozigose materna (HM), HI, PS e IDS. Todos os efeitos incluídos no modelo foram significativos (P<0,01) sobre PES. A média observada e respectivo desvio-padrão para PES foi 29,90±3,55cm. Foi observado efeito polinomial de segunda ordem de PS sobre PES. Foram verificados ganhos decrescentes no PES à medida que o POS aumentou, ou seja, os maiores acréscimos foram observados em animais recém desmamados. O efeito linear de PS sobre PES foi 0,06695804±0,00345000cm/kg, e o efeito quadrático, 0,00005252±0,00000508cm/kg². Para IDS o efeito linear foi de 0,02176450±0,00038568cm/dia. Aumentos de HI e HM promoveram incremento no PES e de GG, decréscimos. Os fatores incluídos no modelo foram importantes fontes de variação que devem ser considerados no ajuste de PES para seleção de tourinhos para melhora da precocidade sexual.

Adjustment factors (AF) for scrotal circumference at yearling (SCY) were figured out for effects of genetic group (GG), individual heterozygosis (IH), yearling weight (YW), and age of the animal at yearling weight (AYW) using body weight and scrotal circumference records from 11,662 Aberdeen Angus, Nelore, and their crosses. The animals were born from 1987 to 2001 and were raised in the South East and Central West Regions of Brazil. The regression coefficients to obtain AF were estimated by least squares means method. The model included the fixed effects of contemporaneous group at yearling (CG), maternal heterozygosis (MH), IH, and the covariates YW (linear and quadratic effects) and AYW (linear effect). All the factors included in the model showed significant effects (P<0.01) on SCY. The mean and standard deviation for SCY were 29.90±3.55cm. Quadratic effect of YW on SCY was also observed. Decreases in SCY with the increase in YW was found. High SCY was observed immediately after post-weaning. The YW effects on SCY were 0.06695804±0.00345000cm/kg (linear effect) and -0.00005252±0.00000508cm/kg² (quadratic effect). The AYW linear effect on SCY was 0.02176450±0.00038568cm/day. The factors included in the model are important sources of variation to adjust SCY for the selection of young bulls in order to improve sexual precocity.

Medidas corporais de novilhos das gerações avançadas do cruzamento rotativo entre as raças Charolês e Nelore, terminados em confinamento / Body measurements of feedlot finished steers from advanced generations of rotational crossbreeding between Charolais and Nellore breeds

Foram avaliados, durante a terminação, os efeitos da heterozigose e do grupo genético nas medidas corporais de novilhos puros (Charolês - C e Nelore - N) e mestiços da segunda (G2) (3/4C1/4N e 3/4N1/4C), da terceira (G3) (5/8C3/8N e 5/8N3/8C) e da quarta (G4) (11/16C5/16N e 11/16N5/16C) geração de cruzamento rotativo. Os novilhos foram confinados durante 97 dias, sendo alimentados com a mesma dieta, contendo 12,32 por cento de proteína bruta e 2,96Mcal de energia digestível kg-1 de matéria seca, com relação volumoso:concentrado de 52:48. Os mestiços apresentaram maiores alturas de cernelha e garupa que a média dos puros tanto no início como no final do confinamento em todas as gerações do cruzamento. No entanto, os animais da G3 tiveram menor taxa de crescimento de garupa que os puros, com heterose de -35,97 por cento. A heterose para as alturas de cernelha e garupa acompanhou a flutuação do grau de heterozigose do cruzamento, porém com diferentes magnitudes. A heterose da G2 para a G3 teve aumento de 48,18; 18,32; 55,15 e 3,20 por cento para as alturas de cernelha inicial e final e para a altura de garupa inicial e final, respectivamente. Dentro dos sistemas de acasalamento, os animais com predominância de Nelore apresentaram maiores alturas de cernelha e garupa que aqueles com maior predominância de Charolês. Os animais mestiços apresentaram maior perímetro torácico e comprimento inicial em todas as gerações, resultando em heteroses de 5,56; 7,73 e 5,91 por cento e de 7,23; 8,98 e 8,99 por cento, respectivamente, na G2, na G3 e na G4. Todas as medidas corporais foram correlacionadas significativamente com o peso, tanto no início como no fim do confinamento.

The objective of this research was to evaluate the heterozygosis and genetic group effects on body measurements of feedlot finished steers, straightbreds (Charolais - C and Nellore - N), and crossbreds from second (G2) (3/4C 1/4N and 3/4N 1/4C), third (G3) (5/8C 3/8N and 5/8N 3/8C) and fourth (G4) (11/16C 5/16N and 11/16N 5/16C) generation of rotational crossbreeding. The steers were fed during 97 days with the same diet, containing 12.32 percent crude protein and 2.96Mcal of digestible energy kg-1 of dry matter, with roughage: concentrate ratio of 52: 48. Crossbred steers showed higher withers and rump heights, at the beginning and at end of the feedlot period, in relation to straightbreds in alls generations of crossbreeding. However, G3 animals showed lower rump growth rate than the straightbreds, with the heterosis -35.97 percent. The heterosis for rump and withers heights followed the fluctuation of the degree of heterozygosis of the crossbreeding, however, with different magnitudes. Heterosis from G2 to G3 increased 48.18; 18.32; 55.15 and 3.20 percent for initial and final heights of withers and for initial and final heights of rump, respectively. Within the crossbreeding systems, animals with Nellore predominance had higher rump and withers heights than those with Charolais predominance. Crossbred animals had greater thoracic perimeter and initial body length in all crossbreeding generations, with the heterosis 5.56; 7.73 and 5.91 percent and, 7.23; 8.98 and 8.99 percent, respectively, in G2, G3 and G4. All the body measurements were significantly correlated with body weight at the beginning and at the end of the feedlot period.

Compound Heterozygosis Mutation of Low Density Lipoprotein Receptor Gene in Familial Hypercholestero-lemia Family / 实用儿科临床杂志

Objective To identify mutations site and clinical characteristics of a familial hypercholesterolemia(FH) proband diagnosed clinically through DNA sequencing and family analysis in the proband and his family members of 3 generations.Methods Blood samples and clinical data of the kindred of total 29 from 3 generations members were collected.Proband had a physical examination electrocar-diogrom and vascular ultrasound.The proband and his family members took routine clinical exams,and genomic DNA was isolated.The promoter region and the 18 exons of low density liporotein receptor(LDLR) gene were screened by Touch down polymerase chain reaction -single strand conformation polymorphism(PCR-SSCP) and DNA sequencing.The result of sequencing were matched gene sequence published in the BLAST database.Results 1.Increased intima-media thickness and plaque were detected in the common carotid artery,right subclavian artery of the proband.Aortic valve regurgitation was found by echocardiography.2.No mutation R3500Q of ApoB100 was observed.3.Two heterozygous mutations in exon 10 and 13 of LDLR gene (W462X and A606T) were identified.The proband and 5 members of paternal relatives showed W462X heterozygosis mutation in exon 10 of LDLR gene which introduced the change from tryptophone to a new stop codon.The proband's mother and grandmother harboured A606T heterozygous mutation in exon 13 of LDLR gene due to a single base pair substitution of G for A in the codon for residue 1 879.Conclusions Disease causing mutations of proband are W462X and A606T compound heterozygosis mutation in exon 10 and 13 of LDLR gene inherited from mother and father.Proband shows homozyous phenotype though the genotype analysis indicates heterozygous mutations.