黔北人群TGFα基因多态性与非综合征性唇腭裂的相关性研究

本研究旨在探讨黔北地区人群TGFα基因3个SNP位点的多态性及其与非综合征性唇腭裂的相关性。采用PCR和测序方法对86个对照儿童(其中核心家系41例)和116个NSCL/P儿童(其中核心家系52例)的TGFα基因rs11466297、rs473698和rs115055578 3个SNP位点进行扩增和测序;对样本群体进行Hardy-weinberg平衡检测,对2组人群进行基因型频率、等位基因频率比较及OR分析;对病例组核心家系进行HHRR和TDT检验。对照组与病例组人群rs11466297基因型均为AA野生型,rs473698位点包含GG型、GC型和CC型,rs115055578位点基因型均为GG野生型。对于rs473698位点,对照组和病例组均符合Hardy-Weinberg平衡法则(p>0.05),2组人群的基因型和等位基因频率分布差异均无统计学意义(p<0.05);rs473698位点未发现传递不平衡现象(p>0.05)。黔北地区人群TGFα基因rs11466297和rs115055578位点以野生纯合型为主,rs473698位点具有多态性,但其多态性与黔北地区人群区非综合征性唇腭裂的发生可能没有相关性。     

The Heritability of Difference Scores when Environments are Correlated

The statistical analysis of difference scores (contrasts) is a fundamental problem in all learning, feeding, and training experiments and tests, and in longitudinal studies of growth and development. Outgoing from the analogy between the mathematical models of classical psychological test theory and quantitative genetics, as well as between the parameters reliability and heritability of these models, the present paper derives the formulas of the heritability of difference scores in general cases where it is not assumed that environmental deviations on distinct tests and measurements are uncorrelated. Contrary to the assertion, made by FELDMAN and LEWONTIN , heritabilities in the broad sense can be used as ideal weighting factors in long-range personnel index selection. Longitudinal studies of twins and the cotwin method are powerful experimental designs to estimate heritabilities of differences.     

Radionuclide Contamination at Kazakhstan's Semipalatinsk Test Site: Implications on Human and Ecological Health

A delegation of five scientists participated in a U.S. National Research Council program to review the status of research on the health and environmental impacts of nuclear testing at the Semipalatinsk Test Site (STS) in the eastern region of the Republic of Kazakhstan. From 11 August through 25 August 2000, we visited several research institutes in Kazakhstan and consulted with numerous Kazakh researchers from academic disciplines ranging from radioecology to public health and medicine. We focused on reviewing data on the health and environmental impacts resulting from the testing. The health effects caused by the testing at STS have received a fair amount of study, and research using modern techniques such as fluorescence in situ hybridization and nuclear magnetic resonance will likely increase the reliability of dose reconstruction. However, the extent to which the STS is contaminated has not been adequately characterized, and the potential exposure to nomadic peoples and ecological receptors at the uncontrolled test site is not known. Additional research in these areas, and development of administrative controls for the site, appears warranted.     

An improved method for estimating original mineral contents in excavated bone using sulfur

Trace element analysis in excavated bones is complicated by the lack of a reliable index for estimating the original amount of bone material. In this study, we subjected modern human bones to alkali treatment to simulate aging. Alkali treatment of vertebrae with attached muscle did not affect sulfur (S) content; it increased the magnesium (Mg), phosphorus (P), and zinc (Zn) contents, and tended to decrease iron (Fe) content of the bones. When vertebrae cleaned of muscle were used, alkali treatment did not affect S and Fe contents but increased Mg, P, Ca, and Zn contents Ca and S contents were higher in excavated bones (200–1300 yr old) than in their surrounding soils. In contrast, S, Mg, and Ca contents per dry weight did not differ between the excavated bones and the alkali-treated modern bones. These results indicate that S can provide a more accurate index of excavated bones than the often-used Ca content or dry wt measures, especially for bones excavated from calcium-rich soils.