四川彝族近亲婚配及其遗传学效应的调查

为了解彝族近亲婚配的现状,1994 年5月在四川省凉山彝族自治州进行了一次大规模抽样调查。六个县共调查彝族夫妇5142 对,其中近亲婚配576 对, 近亲婚配率为11.20% ;平均近交系数达70.62×10- 4 。调查仅见四种亲缘类型,三级亲属通婚占近亲婚配的99.2% ; 舅甥女婚配占近亲婚配的0.8% ; 两代连续近亲婚配占近亲婚配的41.32% 。近亲组流产率及死产率均高于非近亲组(P< 0.05),近亲组15岁以下子女遗传病及先天畸形的患病率也明显高于非近亲组(P< 0.01)。结果表明彝族农村地区近亲婚配仍较普遍, 直接影响到人口素质, 必须予以重视     

近亲婚配的遗传效应和优生

用随机抽样方法调查了象山半岛、海岛居民75874人,发现17种类型的近亲婚配共603对,近亲婚配率2.85％,F16.35×10~(-4),其中三级亲属占85.4％。近亲夫妇的自然流产率、子女20岁前早死率、遗传和先天畸形患病率分别是非近亲的3.7、1.6和4倍,有非常显著的差异(P<0.01)。     

近亲婚配致常染色体隐性遗传性耳聋二例

病例 先证者，男，22岁，因自幼耳聋，不会说话于1993年11月就诊。患者智力、体格发育正常，神志清，无任何相关畸形，10余岁时曾有“青、链霉素”注射史，量不详。检查：双耳外耳道及鼓膜无异常发现．电测听示双耳仅500Hz～1000Hz有80～90dB HL残余听力。声阻抗检查双耳A型鼓室曲线，声反射未引出。外院脑干听觉诱发电位检查：双耳100dB SPL短声刺激未引出反应波。     

我国自古近亲不成婚

我国早在公元前12世纪就规定了同姓不通婚,近亲不婚配的制度。几千年前,我国古代典籍中就有"男女同姓,其生不蕃"的告诫。中医药文化对于近亲婚配的限制与现代医学的优生思想是不谋而合的。     

先天遗传,后天可塑

<正>在自然界,只有素质良好的种子才有可能结出优良的果实。同样道理,只有继承了父母双方良好遗传基因的健康胎儿,才有可能达到优生。研究发现,每个人都有一个相当广阔的智力潜力,这个范围的上限和下限是由遗传决定的。要想有好的孩子,每一个环节都不能放松,胎教固然重要,但好的遗传必不可少。     

职业人群遗传毒性效应的监测

本文报告了有关职业危害因素对人群的遗传毒性效应的监测进展、存在问题、策略及发展趋势。重点讨论了染色体畸变、微核、姐妹染色单体交换、尿液致突变性及DNA加成物等监测指标。     

Y染色体异态与其临床遗传效应探讨

目的　探讨Y染色体异态与其临床遗传效应。方法　对因配偶自然流产史、育儿智力低下或发育异常等进行遗传咨询的男性病例作常规染色体检查。结果　发现Y染色体与第 18号染色体同大 (大Y) 14 5例。在这 14 5例Y染色体异态患者中 ,配偶自然流产占 5 5 17% ,育儿智力低下及发育异常占 2 2 0 7% ;另外因孕妇早期服用致畸药物或合并病毒感染 ,产前诊断大Y男性胎儿占 11 0 3%。结论　提示Y染色体不单纯是一种异态 ,且具有临床遗传效应 ,与胎儿丢失、智力低下及发育异常有关。     

妊娠糖尿病家族遗传模式及遗传度的研究

摘要：目的探讨妊娠糖尿病（GDM）的遗传模式和遗传度。方法选择20个GDM先证的家庭成员,利用流行病学和遗传学方法进行询问调查,包括对家族中有糖尿病（DM）患者的一、二级亲属糖尿病发病年龄、病程发展、治疗方法及并发症等的调查。结果GDM的遗传模式与多基因遗传模式接近,GDM的遗传度为（74．88±10．16）％。结论发生GDM的孕妇本人以及家族成员身上可能存在多个DM相关基因;遗传因素对于GDM的发生有重要作用,但不是唯一的危险因素。     

近亲婚配致聋家系中患者GJB2和线粒体DNA 12S rRNA基因突变热点分析

目的:分析GJB2和线粒体DNA12S rRNA两种常见耳聋致病基因突变热点在近亲婚配致聋家系患者中的发生频率。方法:对25个近亲结婚致聋核心家系的后代进行全面的体格检查和纯音测试,共发现患者48例,采静脉血3 ml,提取DNA,针对特定基因,进行聚合酶链式反应(Polymerase chain reaction,PCR)及限制性片段长度多态性(Restriction fragmentlength polymorphism,RFLP)分析,发现突变者测序验证。结果:发现GJB2基因235delC纯合突变1例,杂合突变3例;未发现线粒体DNA12S rRNA A1555G突变。结论:近亲结婚家系中遗传性聋多为常染色体隐性遗传,但GJB2基因235delC突变的发生率较低。     

Health issues related to customary consanguineous marriage among British Pakistanis

Social, medical and genetic factors related to the practiceof consanguineous marriage are reviewed with particular respectto the British Pakistani population and recent media coverageof topic is also considered. The present study is based on asample of 78 first- and second-generation Pakistanis livingin Britain. The subjects were asked to give their views on consanguineousmarriages and to demonstrate their knowledge of possible healthproblems related to the practice. Sources of information andpersonal experiences of health education on the subject werealso determined. The popularity of consanguineous marriageswas attributed to social rather than religious or economic influencesby the majority of respondents, and television and magazineswere the major sources of health information, rather than schools,family or health workers, emphasising the need for accurateand unbiased information through these channels. Second-generationsubjects, in particular, stressed the desirability of consanguineouscouples receiving health information on potential risks, beforemarriage. Knowledge of genetic disorders associated with consanguineousmarriage was limited with only four subjects identifying beta-thalassemia,despite its high incidence in British Pakistanis (>18 perthousand). A majority of subjects emphasised the need to educateother population groups, including health workers, on the advantagesof consanguineous marriages to counter a perceived widespreadprejudice against the practice. Prenatal screening, with theoption of termination of pregnancy for serious fetal abnormalities,was favoured by a majority of both generations. The need fora considered and rational view of consanguineous marriage onthe part of health professionals is emphasised.     

婚前医学检查中事实婚姻现状与分析

慈溪市 1993～ 2 0 0 0年婚前医学检查 12 2 34 6人 ,其中女性 6 1199人 ,事实婚姻 32 6 40人 ,占 5 3.33% ;已孕数 15 0 92人 ,占 2 4.6 6 %。因此 ,必须加强法制宣传 ,提前进行婚前教育 ,提高群众的自我保健意识 ,使婚前医学检查落到实处。     

The effect of the Affordable Care Act preexisting conditions provision on marriage

This paper investigates the effect of the Affordable Care Act preexisting conditions provision on marriage. The policy was implemented to prevent insurers from denying insurance coverage to individuals with preexisting health conditions. We test whether the implementation of the provision led to decreases in marriage among affected adults. We add to earlier work on how marital behavior is influenced by spousal health insurance and examine for the presence of “marriage lock,” a situation in which individuals remain married primarily for insurance. Using longitudinal data from the Panel Study of Income Dynamics from 2009 to 2017 and estimating difference‐in‐differences models, we find that male household heads with preexisting conditions are 7.12 percentage points (8.9 percent) less likely to be married after the policy. Using information on insurance status prior to the policy change, we find significant reductions in marriage among individuals with preexisting conditions who were previously insured by spousal health insurance plans. The findings suggest that the inability to attain individual coverage and reliance on spousal insurance provided incentives to remain married before 2014.     

Y染色体多态性与临床遗传学效应的研究

目的:探讨Y染色体多态性的临床遗传效应.方法:对因配偶自然流产史、育儿智力低下或本人发育异常、不育等进行遗传咨询的男性病例进行外周血淋巴细胞培养和G显带染色体核型分析.结果:检出183例Y染色体呈多态性,其中148例46,XY,Y≥18; 30例46,XY,Y≤21;3例46,X,Yqs;1例46,X,Yq-;1例46,X,Yp+.148例大Y病例中,91例与自然流产相关;34例与配偶不良孕史相关,包括:神经管畸形、唇腭裂、消化道畸形、心脏畸形等;7例智力低下;6例性腺发育不良;10例不育.小Y病例主要与流产、智力低下、性腺发育不良、无精子症等相关.结论:Y染色体的多态性具有临床遗传效应,它与流产、发育异常及智力低下有关.     

The combined effect of employment status and transcultural marriage on breast feeding: a population-based survey in Taiwan

In recent decades there has been a marked rise in both the labour market participation of women with infants and transcultural marriage in Taiwan. The objectives of this study were to explore the combined effect of employment status and transcultural marriage on the prevalence and factors relating to initiation and continuation of breast feeding in Taiwan. We used multistage stratified systematic sampling to recruit 2048 postpartum women from the Taiwan National Birth Registration database for the period November to December 2003. They were interviewed at home within 6 months of delivery using a structured questionnaire; 87% of the sampled population completed the interview. We used logistic regression analysis to estimate the odds ratio (OR) of breast-feeding initiation and Cox regression (survival) analysis to predict continued breast feeding. The prevalences of initial breast feeding for employed Taiwanese mothers, unemployed Taiwanese mothers, employed foreign-born mothers and unemployed foreign-born mothers were 84.4%, 83.7%, 79.1% and 79.7%, respectively. Among the four groups of mothers who initiated breast feeding, 12.9%, 27.2%, 14.7% and 39.7% of their infants, respectively, were still breast feeding at the age of 6 months. Factors associated with initiation of breast feeding were high maternal education (OR 3.80; 95% confidence interval [CI] 1.81, 7.98) and normal spontaneous delivery (OR 1.36; 95% CI 1.04, 1.78). The main reason for not breast feeding in 52% of the mothers was insufficient or no milk. There existed a combined effect of employment status and transcultural marriage on the continuation of breast feeding. Employed Taiwanese mothers were earlier than others at weaning. Unemployed foreign-born mothers breast fed the longest [hazard ratio (HR) 0.54; 95% CI 0.42, 0.70]. Other factors related to late weaning were high maternal education (HR 0.67; 95% CI 0.47, 0.96), older maternal age (HR 0.76; 95% CI 0.61, 0.94), mother sleeping with baby at night (HR 0.68; 95% CI 0.59, 0.78), and no supplemental baby food before the age of 6 months (HR 0.78; 95% CI 0.68, 0.90). The initiation of breast feeding was high but it decreased dramatically after the postpartum period in Taiwan. There was a significant combined effect of employment status and transcultural marriage on the continuation of breast feeding. Employment is a persistent barrier to continued breast feeding.     

Effects of marriage equality legislation on sexual health of the US population

Even though prior research has investigated the relationship between same-sex partnership recognition policies and health outcomes, the impact of same-sex marriage laws on sexually transmitted infections has not received much attention. Using state-level panel data from 2000 to 2019, I show that marriage equality legislation decreases the spread of (shorter-term) syphilis infections and of (longer-term) human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) infections among the general population. Event study analyses correcting for non-staggered treatment implementation confirm these negative effects, but also suggest that standard difference-in-differences models understate the impact of the legislation by up to 8% points. Further analysis supports that these legislation effects operate through three mechanisms: increasing social tolerance, strengthening relationship commitment, and expanding health care access and coverage for HIV/AIDS prevention and treatment. Disaggregating the results by sexual behavior reveals that legal access to same-sex marriage leads to sizable decreases in AIDS rates among men who have sex with men (MSM) (the most at-risk population for an infection). Even though there is economically significant evidence that the legislation improves sexual health of the heterosexual population due to increased utilization of preventive sexual health care, the legislation does not have a direct impact on infection rates for the non-MSM population.     

The willingness of spouses to seek marriage and family counseling services

Drawing upon a probability sample of 928 military couples (1,856 spouses), three clusters of variables were identified from a review of the help-seeking literature and examined for their contribution to explaining variation in the likelihood of husbands and wives seeking marriage and family counseling services given a marital or family problem: (a) demographic, (b) program-related, and (c) informal help-seeking orientation. Three of the six independent variables that were included in the analysis emerged as significant predictors of the potential use of counseling services by both husbands and wives: knowledge and prior use of services, years of formal education, and willingness to consult parents and other relatives given a major personal or family problem. Interpretations of the findings are offered for consideration, and recommendations are presented both for expanding clinical outreach efforts and for guiding further research.The data for this study were collected under USAF Contracts F33600-70-C-0423 and F33600-70-81-R-0290. Any opinions, findings, or conclusions expressed in this publication are those of the authors and do not necessarily reflect the views of the Department of the Air Force.     

安徽省乡镇级妇幼卫生服务人员培训需求评估分析

利用现场调查资料 ,对安徽省乡镇级妇幼卫生人员基本情况和培训需求等情况进行分析总结。在此基础上 ,就如何确定优先领域、培训内容、培训方式、培训时间以及教材编写等问题提出了具体的建议。     

Rebinding the ties that bind: Government efforts to preserve and promote marriage*

Governmental efforts to strengthen marriage through a variety of approaches have become increasingly common in the last decade. Societal trends related to family formation, marriage, and divorce have shaped interest in marriage and its stability as a social institution. The public sector has targeted efforts at key stages in the life history of the family system, including preparation for marriage, formation of marriage, rights and responsibilities within marriage, and dissolution of marriage. Particular governmental approaches to preserving and promoting marriage in these contexts are reviewed and discussed, and implications for practitioners and policymakers are outlined.