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本文引用的文献

1
THE EXISTENCE OF NON-CHROMOSOMAL INFLUENCE IN THE INCIDENCE OF MAMMARY TUMORS IN MICE.小鼠乳腺肿瘤发病率中存在非染色体影响因素。
Science. 1933 Nov 17;78(2029):465-6. doi: 10.1126/science.78.2029.465.
2
Kuru.库鲁病
Trans R Soc Trop Med Hyg. 1963 May;57:151-69. doi: 10.1016/0035-9203(63)90057-9.
3
Comparison of the number of breast-cancer deaths observed in relatives of breast-cancer patients, and the number expected on the basis of mortality rates.乳腺癌患者亲属中观察到的乳腺癌死亡人数与基于死亡率预期的死亡人数的比较。
J Natl Cancer Inst. 1959 May;22(5):927-51. doi: 10.1093/jnci/22.5.927.
4
Leber's optic atrophy: a possible example of vertical transmission of a slow virus in man.莱伯视神经萎缩症:人类中慢病毒垂直传播的一个可能实例。
Australas Ann Med. 1970 Aug;19(3):259-62. doi: 10.1111/imj.1970.19.3.259.
5
Type-C particles in human tissues. I. Electron microscopic study of embryonic tissues in vivo and in vitro.人体组织中的C型颗粒。I. 体内和体外胚胎组织的电子显微镜研究。
Int J Cancer. 1970 Jul 15;6(1):40-5. doi: 10.1002/ijc.2910060107.
6
Brief communication: C-type particles in normal human placentas.简短通讯:正常人胎盘组织中的C型颗粒
J Natl Cancer Inst. 1973 Apr;50(4):1081-4. doi: 10.1093/jnci/50.4.1081.
7
An epidemiologic study of breast cancer.一项乳腺癌的流行病学研究。
J Natl Cancer Inst. 1974 Sep;53(3):609-14. doi: 10.1093/jnci/53.3.609.
8
Types B and C RNA virus in breast tissue and milk of wild mice.野生小鼠乳腺组织和乳汁中的B型和C型RNA病毒。
J Natl Cancer Inst. 1973 Jun;50(6):1581-9. doi: 10.1093/jnci/50.6.1581.
9
Primary infection with human cytomegalovirus: virus isolation from healthy infants and pregnant women.人巨细胞病毒的原发性感染:从健康婴儿和孕妇中分离病毒
Am J Epidemiol. 1970 Apr;91(4):410-7. doi: 10.1093/oxfordjournals.aje.a121151.
10
Vertical transmission of hepatitis B antigen in Taiwan.台湾地区乙型肝炎抗原的垂直传播
N Engl J Med. 1975 Apr 10;292(15):771-4. doi: 10.1056/NEJM197504102921503.

分析家族病史数据,以寻找垂直传播导致的非孟德尔遗传证据。

Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission.

作者信息

Fine P E

出版信息

J Med Genet. 1977 Dec;14(6):399-407. doi: 10.1136/jmg.14.6.399.

DOI:10.1136/jmg.14.6.399
PMID:342695
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013634/
Abstract

A number of infections of man, as well as of other animal and plant species, are heavily dependent upon 'vertical transmission'--that is direct parent-to-progeny transfer--for their maintenance in host populations. Such vertical transmission may be considered as a form of inheritance. It is usually non-Mendelian. This paper discusses the implications of such inheritance for the distribution of disease in families. A method is described for making quantitative predictions of prevalence rates of infection and of disease within different classes of relatives of either infected or uninfected probands. It is pointed out that, whereas a maternal line excess is to be expected among relatives of positive probands, the opposite should be found in families of negative probands. Expected differences between maternal and paternal line prevalence rates of observable disease decline rapidly with distance of relationship from the proband, and are greatly reduced by diagnostic insensitivity (analogous to penetrance). The implications of this analytic method for the design of family history studies are discussed. Published data on familial breast cancer are reviewed, and found to show no evidence that this condition is associated with a non-integrated vertically transmitted agent.

摘要

许多人类感染,以及其他动植物物种的感染,在很大程度上依赖“垂直传播”——即从亲代直接传给子代——来在宿主种群中维持。这种垂直传播可被视为一种遗传形式。它通常是非孟德尔式的。本文讨论了这种遗传对疾病在家族中分布的影响。描述了一种方法,用于对感染率和疾病患病率在受感染或未受感染先证者的不同亲属类别中的情况进行定量预测。指出,虽然在阳性先证者的亲属中预计会出现母系亲属过多的情况,但在阴性先证者的家族中情况则相反。可观察到的疾病在母系和父系亲属患病率之间的预期差异会随着与先证者关系的疏远而迅速下降,并且会因诊断不敏感(类似于外显率)而大大降低。讨论了这种分析方法对家族史研究设计的影响。对已发表的家族性乳腺癌数据进行了综述,发现没有证据表明这种疾病与非整合性垂直传播因子有关。