Polymorphism of four microsatellites and their polymerisation effect on litter size in Boer goats

Background: Finding molecular markers linked to quantitative trait loci is the first step in marker-assisted selection (MAS). Microsatellites are excellent molecular markers because of their large numbers, even distribution in the genome, and high polymorphism. In this study, the polymerisation effect of four microsatellites (OarAE101, BM1329, BM143, and LSCV043) on litter size was analysed using microsatellite markers and pedigrees. Results: The results indicate that the polymerisation effect of four microsatellite loci significantly affected the litter size. E5E10F2F6G1G5H6H11 and E3E8F5F7G1G5H3H9 had the highest and lowest litter sizes in the F2 generation, respectively. The polymerisation effect value (v) of the E5E10 genotype was 3.18% higher than that of the E2E7 genotype. The v of genotype F2F6 was 14.47% higher than that of the F5F7 genotype. The v of genotype G1G5 was 58.99% higher than that of the G2G7 genotype. The v of the H6H11 genotype was 5.60% to 49.74% higher than those of the H4H10 and H1H7 genotypes. The v of the H3H9 genotype was 17.22% higher than that of the H1H7 genotype. Conclusions: The results of the present study are vital to improving the reproductive performance in goat breeds MAS.

Clinical characteristics of diabetic pedigree with mtDNA 12026A→G mutation in Nd4 region / 中国糖尿病杂志

Objective To investigate clinical traits of 2 families members habouring mtDNA 12026A→G mutation based on our previous studies.Methods 25 members in 2 families with probands with mtDNA 12026 mutation were examined.All their clinical and biochemical data were collected.Total genome was extracted conventionally from peripheral leucocytes of all participants,and PCR-RFLP techniques were applied to screen A to G substitution at nucleotide 12026 of mtDNA in ND4 region.Results We found 13 individuals habouring the 12026 A→G mutation in 2 pedigrees,all without deafness.Among them,5 with diabetes were found.Interestingly,we found 3 individuals with hyperthyroidism in one family(one also combined with diabetes).Conclusions Our findings suggest that diabetic families with mtDNA 12026 A→G mutation in ND4 region can have different clinical pictures,and may involve in autoimmune diseases

Análise genética de problemas craniofaciais: revisão da literatura e diretrizes para investigações clínico-laboratoriais (parte 2) / Genetic analysis of craniofacial problems: a review of the literature and some guidelines for clinical and laboratorial investigation (part 2)

OBJETIVO: esse artigo tem como objetivo ser uma fonte de informação acerca das técnicas e análises genéticas mais utilizadas em investigações clínicas e laboratoriais visando a identificação e a caracterização de genes relacionados a doenças ou distúrbios complexos, especialmente os que atingem as estruturas do crânio e da face. METODOLOGIA: são traçadas algumas diretrizes para guiar os futuros pesquisadores nos processos de seleção de amostras e obtenção de heredogramas para estudos genéticos e fornecidos conceitos e princípios gerais que norteiam métodos de análises genéticas. Tais métodos exigem conhecimento a respeito de transmissão gênica, genética molecular e utilização de marcadores moleculares, assim como envolvem o domínio de técnicas laboratoriais como, por exemplo, reações de polimerização em cadeia (PCR), eletroforese e seqüenciamento de DNA. RESULTADOS E CONCLUSÕES: as análises genéticas, em especial as análises de segregação e de ligação, representam importantes ferramentas à disposição dos pesquisadores na tentativa de relacionar fenótipos a genes específicos e na busca da exata localização cromossômica dos mesmos. Espera-se com esse artigo que os cirurgiões-dentistas clínicos possam começar a perceber a importância do assunto e buscar se aprofundar nessa área.

AIM: The aim of this paper is to inform the reader about genetic techniques and analysis used in clinical and laboratorial investigations for the identification and characterization of the genetic determinants for complex disorders, especially those that attain craniofacial structures. METHODS: General concepts and principles of important methods of genetic analysis are given as well as some guidelines for future researchers, concerning sample gathering and pedigrees construction. These methods described here require knowledge about genetic transmission, molecular genetics and DNA markers, and involve the ability to deal with the current laboratorial techniques, including polymerase chain reactions, agarose or polyacrilamide gel and the use of DNA sequencers. RESULTS AND CONCLUSIONS: Those genetic analysis, mainly the segregation and the linkage analysis, are considered important tools in the attempt to make the relationship between some phenotypes and specific genotypes, and to search for the exact chromosomal localization of each one of these genes. The knowledge of these information can help clinical dentists to understand the important role played by genetics, leading them to get deeper into the subject.

Clinical characteristics of congenital long QT syndrome families / 西安交通大学学报(医学版)

Objective To elucidate the clinical manifestati on s and electrocardiogram characteristics of congenital long QT syndrome families and try to find out the genotype of the long QT syndrome(LQTS) patients. Methods The routine clinical check up and ECG recordings we re done for the 3 family members. Both QT interval and QTc were measured. Diagno stic criteria for LQTS were defined by Schwartz. Results Fifteen family members were identified as with LQTS and 11 members with intermediate probability to LQTS. The clinical manifestatio ns and ECG characteristics were different from each other. Conclusion The clinical manifestations and ECG characterist ics of LQTS patients from family 1,family 2 and family 3 correspond with LQT2, L QT1 and LQT3, which is caused by HERG,KVLQT1 and SCN5A gene mutation.

Clinical characteristics of diabetic pedigree with mtDNA 12026 A→G mutation in ND4 region / 中国糖尿病杂志

Objective To investigate clinical traits of 2 families members habouring mtDNA 12026A→G mutation based on our previous studies.Methods 25 members in 2 families with probands with mtDNA 12026 mutation were examined.All their clinical and biochemical data were collected.Total genome was extracted conventionally from peripheral leucocytes of all participants,and PCR-RFLP techniques were applied to screen A to G substitution at nucleotide 12026 of mtDNA in ND4 region.Results We found 13 individuals habouring the 12026 A→G mutation in 2 pedigrees,all without deafness.Among them,5 with diabetes were found.Interestingly,we found 3 individuals with hyperthyroidism in one family(one also combined with diabetes).Conclusions Our findings suggest that diabetic families with mtDNA 12026 A→G mutation in ND4 region can have different clinical pictures,and may involve in autoimmune diseases.