Breast Cancer Risk Assessment and Counseling: A Clinician's Guide

Abstract: Most individuals concerned about hereditary breast cancer risk will neither order nor benefit from genetic testing at the present time. Many will, however, seek information about their risk and testing. Risk assessment services, in addition to providing information about hereditary risk and genetic testing, need also to include assessment of non-hereditary risks, information about how to evaluate risks, early detection modalities, the etiology of cancer, and assistance in devising follow-up health care plans. Psychosocial factors, particularly those pertaining to the individual's past history with illness and beliefs about causes and prognosis, must be taken into account to provide relevant information that is understood. A case history with examples of some of the types of information that lead to informed consent in a cancer risk assessment setting is provided.     

先天性耳前瘘管遗传特征的流行病学调查

用遗传流行病学调查对２４５例先天性耳前瘘管进行了系谱分析。揭示了该病的遗传特征为“常染色体显性遗传伴外显不全”，本调查还发现该病的另一特征，即患病体侧的家族一致性。     

单发性双侧面横裂伴有家族遗传和染色体异常3例报告

报告3例单发性双侧面横裂伴有三代家族遗传史和相同的染色体异常核型,相同的对称性恒牙(胚)先天性缺如,并对面横裂的发病机制及病因学进行了讨论。这是一组极罕见的病例,在所涉猎的文献中,迄今尚未见相同报道,是否为一种新的综合征,目前尚不能定论,有待今后进一步探讨     

Heredity-environment analyses of Jencks's IQ correlations

Three different published heredity-environment analyses of Jencks's summary correlations for IQ have yielded strikingly different results. It is shown empirically that differences in selection of data and in computational procedures and logical inconsistencies in specifying equations are not responsible for the differences in results. Rather, the differences trace to the underlying assumptions made by the various authors. The analyses suggest that the assumptions concerning genetic dominance, assortative mating, and special twin environments were especially critical, while those regarding selective placement and different modes of environmental transmission were not.     

Heredity in personality disorders — an overview

The concept of personality disorders is based on deviant personality traits in both the DSM-III-R and ICD-10 classifications. A diagnosis of personality disorder can be made reliably with structured interviews. Many individuals are diagnosed with more than one personality disorder, and other mental disorders are often found at the same time. Among the 11 personality disorders in DSM-III-R, only the schizotypal, borderline, and antisocial have been examined to any considerable extent for gene effects. The problems of studying heredity are here demonstrated for borderline and antisocial personality disorders. Recommendations are given as to strategies for further study of heredity in personality disorders.     

山东省潍坊东部地区精神分裂症1号染色体基因扫描研究

目的对精神分裂症患者及正常对照者的1号染色体进行扫描,查找精神分裂症的关联位点。方法在1号染色体上间隔10cM（厘摩）遗传距离,选择了31个微卫星遗传位点,用DNA混合池的方法对119例精神分裂症患者与119名正常对照者的DNA样本分别混合后进行基因组扫描。经卡方检验分析,对比患者组与对照组的等位基因峰型比率的差异。结果在D1S2878遗传位点患者组与对照组的等位基因频率差异有统计学意义,P〈0.01。结论山东省潍坊东部地区精神分裂症患者群体中存在与1号染色体的关联区域。     

Autosomal and maternal effects on pupation behavior inDrosophila melanogaster

This study demonstrates the importance of using a complete set of 16 reciprocal crosses (F₁, backcrosses, and F₂) to thoroughly investigate both genetic and nongenetic influences on patterns of inheritance of larval pupation behavior inDrosophila melanogaster. Larvae derived from natural populations show significant variation in pupal height, defined as the distance a larva pupates above the feeding substrate. Differences in the distance a larva pupates from fruit in nature is known to affect the fitness ofDrosophila populations. In this study the heredity of pupal height is analyzed by performing crosses between high- and low-pupating strains. We found that the inheritance of pupal height fit a classical additive polygenic model of inheritance, with intermediate F₁ pupal heights and greater variances in the F₂ generation. In addition, a significant maternal effect was also found by analyzing the reciprocal backcrosses. Progeny with low-pupating mothers had lower pupation heights than those with low-pupating fathers. Similarly, progeny with high-pupating mothers tended to have higher pupal heights than those with high-pupating fathers. This maternal effect was not attributable to strain differences in permanent cytoplasmic factors, sex chromosomes, or developmental time. Finally, we speculate upon the environmental conditions under which a transient maternal effect on pupation behavior would be expected to evolve in natural populations.This work was supported by a University Research Fellowship and Operating Grant from the Natural Sciences and Engineering Research Council to M. B. Sokolowski. S. J. Bauer was the recipient of an Ontario Graduate Scholarship.     

精神分裂症患者及其亲代的个性研究

目的 探讨精神分裂症患者及其亲代在个性上有无关系。方法 采用明尼苏达多相人格调查表（MMPI）对位受试者进行测查,所测结果采用计算机处理,得出各量表T分值,结果用t检验。结果 精神分裂症患者及其亲代在所有量表上经统计处理两组无显著性差异（P＞0.5),但两组与正常对照组在抑郁症、癌症、男子气与女子气、妄想狂、精神衰弱、精神分裂症量表上有显著性差异（P＜0.001)。结论 精神分裂症患者及其前代均具有分裂样人格,提示两者在个性方面有一定的遗传联系,这种分裂样人格可能是导致精神分裂症发病的素质因素。     

Observations on heredity and obesity in the emergence of diabetes

Summary The 899 offspring of Natal Indian diabetic couples are compared with the general Indian population. Diabetes was present in 25% of offspring aged 40– 49 as against 14.7% of the general population. The ratio of offspring diabetics to population diabetics diminished with age, suggesting that the genetic influence affects mainly age of onset of diabetes. Old and young diabetic couples had a similar proportion of diabetic children. Another similar comparison could be made between an inbred Tamil Indian family in Cape Town and the general population of Cape Hindus. More young diabetics were obese than old diabetics, in3 different racial groups and in both clinic and survey diabetics, whereas in the general population obesity is more common over age 40. Overweight may be a more important diabetes risk factor in young than in old people.

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Beobachtungen über Erblichkeit und Fettleibigkeit beim Auftreten des Diabetes

Zusammenfassung Eine Gruppe von 899 Indern aus Natal, Nachkommen diabetischer Elternpaare, wurde mit der indischen Gesamtbevölkerung in Natal verglichen. Diabetes wurde in 25% der Nachkommen im Alter zwischen 40 und 49 Jahren beobachtet, verglichen mit 14.7% in der Gesamtbevölkerung. Die Verhältniszahl: Diabetiker unter den Nachkommen zu den Diabetikern in der Gesamtbevölkerung verringerte sich mit ansteigendem Alter; dieser Befund scheint anzudeuten, daß ein möglicher genetischer Faktor einen besonderen Einfluß auf das Alter ausübt, in dem der Diabetes sich manifestiert. Alte und junge Elternpaare hatten eine ähnliche zahlenmäßige Verteilung diabetischer Kinder. Ein ähnlicher Vergleich konnte zwischen einer Familiengruppe indischer Tamilen in Kapstadt und der gesamten HinduBevölkerung' von Kapstadt angestellt werden. Bei drei rassisch verschiedenen Bevölkerungsgruppen und bei klinischen wie bei neuentdeckten Diabetikern wurde festgestellt, daß Fettleibigkeit häufiger bei jungen als bei alten Diabetikern auftrat, während in der Gesamtbevölkerung die Fettleibigkeit im Alter von über 40 Jahren häufiger war. Übergewicht ist ais Risikofaktor für den Diabetes vielleicht wichtiger bei jüngeren als bei älteren Personen.

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Observations sur l'hérédité et l'obésité dans l'apparition du diabèté

Résumé 899 enfants nés de couples Indiens diabétiques (province du Natal) ont été comparés à l'ensemble de la population indienne. Le diabète était présent chez 25% des descendants âgés entre 40 et 49 ans contre 14.7% pour la population générale. La différence de prévalence du diabète entre les descendants des couples diabétiques et la population générale diminuait avec l'âge, ce qui semble indiquer que le facteur génétique affecte surtout l'âge d'apparition du diabète. La proportion d'enfants diabétiques était identique pour les couples diabétiques jeunes ou vieux. Cette même comparaison a pu se faire entre une famille indienne Tamil dont les membres s'épousent entre eux et vivant au Cap et l'ensemble de la population indienne du Cap. La prévalence d'obésité était plus grande chez les diabétiques jeunes que chez les diabétiques âgés dans trois groupes raciaux différents et ceci aussi bien pour le diabète symptomatique qu' asymptomatique; par contre l'obésité est plus fréquente pour la population générale dépassant l'âge de 40 ans. L'obésité semble jouer un rôle plus important comme facteur diabétogène chez les jeunes que chez les personnes âgées.