RESUMO
The objective of this paper is to establish a genetic characterization of the Senepol (S, n=49), Holstein (H, n= 60), Hartón del Valle (HV, n=60), Angus (A, n=61) and Brangus (Br, n=60) cattle breeds in Colombia, by using the following microsatellite markers: SPS115, INRA64, ETH225, ETH10, BM1824, INRA37, TGLA122, TGLA126, INRA32, and BM2113. A total of 142 alleles were obtained for ten analyzed loci, considering the five cattle breeds as a whole. The number of alleles per locus ranged from 9 (INRA64 and 1824) to 22 (TGLA122). The expected heterozygosity was between 0.79 (INRA32) and 0.90 (INRA37) in all the cattle breeds, respectively; and medium heterozygosity was 0.84. The average number of alleles per breed varied from 9.2 in the Senepol breed to 10.3 in the Holstein breed. The expected heterozygosity range varied from 0.75 in the Hartón del Valle breed and 0.82 in the Holstein breed, with an average of 0.79. Hardy Wienberg disequilibrium was observed (p>0.05) when the populations were analyzed with all the markers. All the populations presented a heterozygote deficit, which could be the result of a strong endogamy tendency within all the herds. The markers used in this study allowed a genetic characterization of the analyzed populations. The microsatellites panel in the Hartón del Valle breed should be increased in order to increase the reliability value. Microsatellite panels could solve parenthood cases for the remainder breeds.
El objetivo de este trabajo fue caracterizar genéticamente las razas bovinas Senepol (S, n=49), Holstein (H, n= 60), Hartón del Valle (HV, n=60), Angus (A, n=61) y Brangus (Br, n=60) en Colombia, con los marcadores microsatélites SPS115, INRA64, ETH225, ETH10, BM1824, INRA37, TGLA122, TGLA126, INRA32 y BM2113. En total, 142 alelos fueron encontrados en los diez loci analizados, considerando las cinco razas como un todo. El número de alelos por locus estuvo entre 9 (INRA64 y BM1824) y 22 (TGLA122). La Heterocigosidad esperada a través de todas las razas varió entre 0.79 (INRA32) y 0,90 (INRA37) y heterocigosidad media esperada de 0.84. El número promedio de alelos por raza varió de 9.2 en la raza S a 10.3 en la raza H. El rango de la Heterocigosidad esperada entre las razas varió entre 0.75 en la raza HV y 0.82 en la raza H, con una media de 0.79. Al analizar las poblaciones con el total de marcadores, todas se encontraron en desequilibrio de Hardy Weinberg (p>0.05). Todas las poblaciones presentaron un déficit de heterocigotos, para todas las poblaciones, lo que podría ser el resultado de la fuerte tendencia a la endogamia dentro de los diferentes hatos. Los resultados indicaron que los marcadores utilizados en este estudio permitieron caracterizar genéticamente las poblaciones analizadas. En el caso de la Raza HV, se debe aumentar el panel de microsatélites para aumentar el valor de confiabilidad. Para las demás razas el panel de microsatélites permitiría resolver casos de filiación.
O objetivo do presente trabalho foi caracterizar geneticamente as raças Senepol (S, n=49), Holandês (H, n= 60), Hartón del Valle (HV, n=60), Angus (A, n=61) e Brangus (Br, n=60) na Colômbia, com os marcadores microsatélites SPS115, INRA64, ETH225, ETH10, BM1824, INRA37, TGLA122, TGLA126, INRA32 e BM2113. Em total, 142 alelos foram encontrados nos 10 satélites analisados nas cinco raças. O número de alelos esteve entre 9 (INRA64 e BM1824) e 22 (TGLA122). A heterocigosidade esperada a través de todas as raças variou entre 0.79 (INRA32) e 0.90 (INRA37) e heterocigosidade esperada de 0.84. O número médio de alelos por raça variou de 9.2 na raça S a 10.3 na raça H. O rango de heterocigosidade esperada entre raças variou entre 0.75 na raça HV e 0.82 na raça H, com una media de 0.79. Ao analisar as populações com o total de marcadores encontraram-se o desequilíbrio Hardy Weinberg (p>0.05). Todas as populações apresentaram um déficit de heterocigotos, o que poderia ser o resultado da forte tendência de endogamia nos diferentes rebanhos analisados. Os resultados indicaram que os marcadores utilizados em este estúdio permitiram caracterizar geneticamente as populações analisadas. No caso da raça HV deve-se aumentar o número de microsatélites para aumentar o valor de confiabilidade. Para as demais raças os microsatélites analisados permitiriam resolver casos de paternidade.
RESUMO
Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22-q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22-q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E - 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E - 13) and rs4460498 (P = 6.51E - 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5' and 3' of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies.