中国汉族人群中Dia抗原和Dib抗原的分子遗传分析

目的研究中国汉族人群Diego血型系统中Dia和Dib抗原表达的分子遗传背景。方法采用血型血清学方法对2990例非血缘关系的捐血者进行Diego血型鉴定,从中随机选择20例表现型为Di(a-b )的样本,以及筛选到的所有Di(a b-)稀有血型样本,采用PCR-SSP、DNA直接测序方法分析Diego血型基因的分子遗传背景。结果2990例捐血者中,发现Di(a b-)表现型2例,Di(a b )167例,Di(a-b )2821例。随机选择的20例表现型为Di(a-b )的DNA样本,经PCR-SSP法检测的基因型为DI2DI2,对DI基因第19外显子直接测序,2561位上碱基为C。2例稀有血型Di(a b-)的DNA序列在19外显子2561位上碱基为T,基因型为DI1DI1。结论中国汉族人群Dia和Dib抗原表达的分子遗传基础是DI基因第19外显子2561位上碱基T-C的置换,引起第854位氨基酸的改变。     

Twelve-locus Y-STR haplotypes in the Flemish population

POPULATION: One hundred and thirteen unrelated Flemish men from Belgium.     

Typing the 1.1 kb control region of human mitochondrial DNA in Japanese individuals

This study presents a reliable method that uses high-fidelity long-range PCR and optimized primers to assess polymorphism and to genotype human mitochondrial DNA (mtDNA). This method was used to analyze polymorphic sites in the human mtDNA control region, including hypervariable regions I, II, and III (HVI, HVII, and HVIII), from 124 unrelated Japanese individuals. In HVI, HVII, and HVIII, 80, 37, and 14 polymorphic sites were identified, respectively, excluding those in the homopolymeric cytosine stretch (C-stretch) regions. The region between HVI and HVII also contained 15 polymorphic sites. On the other hand, C-stretch length heteroplasmy in HVI or HVII was observed in 66 of 124 Japanese individuals (53%), which is much higher than in Caucasian populations. The variants in the C-stretch regions were characterized by counting the number of heteroplasmic peaks split from the single peak in homoplasmic sequences (i.e., 16244G and 16255G in HVI and 285G in HVII). Including the C-stretch length heteroplasmy, the 124 Japanese mtDNA samples were classified into 116 distinct haplotypes. The random match probability and the genetic diversity were estimated to be 0.95% and 0.998581, respectively, indicating that the method presented here has higher discrimination than the conventional method for mtDNA typing using HVI and HVII. [Correction added after publication 30 January 2007: in the preceding sentence random match probability and genetic diversity estimates were corrected from 0.95 and 0.998581%, respectively, to 0.95% and 0.998581, respectively.] The haplogroups and their frequencies observed in this study (i.e., D4; 13.7%, M7a1; 11.3%, D4a; 9.7% and M7b2; 8.9%) were similar to those observed in other studies of Japanese mtDNA polymorphism. The method described here is suitable for forensic applications, as shown by successful analysis of tissues from highly putrefied remains of an infant, which allowed maternal relationship to be determined via mtDNA haplotyping.     

Polymorphism analysis of Y-chromosomal haplotypes in the Chinese Han population living in the Shaanxi province of China

Population: Chinese Han population living in the Shaanxi Province of China.     

Prediction of stature based on radiographic measurements of cadaver long bones: a study of the Croatian population

We tested a new approach to the stature prediction that could be used in the identification process of human skeletal remains of unknown identity. The stature of 19 female and 21 male adult cadavers was measured within 24 h after death and considered to be equal to the living stature. The antero-posterior radiographs of all limbs were taken, and the maximum length of the six long bones was measured from radiographs. There was a significant difference in the stature and maximum length of long bones between female and male cadavers (p<0.001 for all). The correlation between the stature and long bone length was the best for the humerus in females (r=0.792) and the tibia in males (r=0.891). Regression equations specific to the Croatian population were computed separately for each long bone in males and females and proven to be reliable in predicting the living stature of the individual.     

Studies of the chronological course of wisdom tooth eruption in a Black African population

The importance of forensic age estimation in living subjects has grown over the last few years. In dental age estimation, tooth eruption is a parameter of developmental morphology that can be analyzed by either clinical examination or by evaluation of dental X-rays. In the present study, we determined the stage of wisdom tooth eruption in 410 male and 106 female Black South African subjects of known age (12-26 years) based on radiological evidence from 516 conventional orthopantomograms. Four eruption stages were determined (no emergence, alveolar emergence, gingival emergence, complete emergence). Statistical scores were determined for the individual stages separately for both sexes. The data presented here can be utilized for forensic estimation of the minimum and most probable ages of investigated persons.