• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

复杂遗传中的复发风险,特别关注幽门狭窄。

Recurrence risks in complex inheritance with special regard to pyloric stenosis.

作者信息

Lalouel J M, Morton N E, MacLean C J, Jackson J

出版信息

J Med Genet. 1977 Dec;14(6):408-14. doi: 10.1136/jmg.14.6.408.

DOI:10.1136/jmg.14.6.408
PMID:604490
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013635/
Abstract

A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The question of whether consultees demand as much specificity should be subordinate to the question of whether counsellors are justified in providing less.

摘要

大量关于分离家族的数据被用于生成在性别和出生顺序条件下的特定复发风险,以用于多基因加母体效应的最佳拟合模型。该方法对于复杂遗传疾病具有通用性,且任何正规的遗传诊所都有能力使用。咨询者是否需要如此多的特异性这一问题,应从属于咨询师是否有理由提供更少特异性这一问题。

相似文献

1
Recurrence risks in complex inheritance with special regard to pyloric stenosis.复杂遗传中的复发风险,特别关注幽门狭窄。
J Med Genet. 1977 Dec;14(6):408-14. doi: 10.1136/jmg.14.6.408.
2
Infantile pyloric stenosis inheritance, psyche and soma.
Ir J Med Sci. 1973 Jan;142(1):6-18. doi: 10.1007/BF02949984.
3
The inheritance of pyloric stenosis explained by a multifactorial threshold model with sex dimorphism for liability.幽门狭窄的遗传由一个具有性别二态性的多因素阈值模型来解释。
Genet Epidemiol. 1986;3(1):1-15. doi: 10.1002/gepi.1370030102.
4
Isolated hypertrophic pyloric stenosis and perinatal factors.
Genet Couns. 2003;14(1):101-3.
5
Genetic analyses of pyloric stenosis suggesting a specific maternal effect.幽门狭窄的基因分析提示一种特定的母体效应。
J Med Genet. 1976 Aug;13(4):290-4. doi: 10.1136/jmg.13.4.290.
6
Infantile pyloric stenosis. A review of 200 cases.
Scott Med J. 1969 May;14(5):156-61. doi: 10.1177/003693306901400502.
7
[Hypertrophic pyloric stenosis in infants. A retrospective study of cases observed in the years 1970-1990].[婴儿肥厚性幽门狭窄。1970 - 1990年观察病例的回顾性研究]
Pediatr Med Chir. 1992 Jul-Aug;14(4):441-3.
8
Pre- and perinatal risk factors for pyloric stenosis and their influence on the male predominance.先天性肥厚性幽门狭窄的产前和围生期危险因素及其对男性优势的影响。
Am J Epidemiol. 2012 Jul 1;176(1):24-31. doi: 10.1093/aje/kwr493. Epub 2012 May 2.
9
A statistical analysis of birth-order effects with application to data on pyloric stenosis.出生顺序效应的统计分析及其在幽门狭窄数据中的应用。
Ann Hum Genet. 1978 Oct;42(2):213-7. doi: 10.1111/j.1469-1809.1978.tb00653.x.
10
Congenital hypertrophic pyloric steosis in triplets.三胞胎中的先天性肥厚性幽门狭窄
Arch Dis Child. 1974 Apr;49(4):325. doi: 10.1136/adc.49.4.325.

引用本文的文献

1
Infantile hypertrophic pyloric stenosis--genetics and syndromes.婴儿肥厚性幽门狭窄——遗传学和综合征。
Nat Rev Gastroenterol Hepatol. 2012 Nov;9(11):646-60. doi: 10.1038/nrgastro.2012.133. Epub 2012 Jul 10.
2
MITRAL VALVE PROLAPSE AND CONGENITAL PYLORIC STENOSIS IN IDENTICAL TWINS.同卵双胞胎中的二尖瓣脱垂与先天性幽门狭窄
Cardiovasc Dis. 1979 Dec;6(4):463-467.
3
Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis.神经元型一氧化氮合酶基因(NOS1)作为婴儿幽门狭窄易感基因座的遗传学证据。
Am J Hum Genet. 1996 Feb;58(2):363-70.
4
Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.婴儿幽门狭窄与9号染色体q11 - q33标记的连锁分析:该候选区域不存在主基因的证据。
J Med Genet. 1993 May;30(5):393-5. doi: 10.1136/jmg.30.5.393.
5
Complex segregation analysis of Gilles de la Tourette syndrome: further evidence for a major locus mode of transmission.抽动秽语综合征的复杂分离分析:主要基因座传递模式的进一步证据。
Am J Hum Genet. 1984 May;36(3):704-9.
6
Detection of major gene for Gilles de la Tourette syndrome.抽动秽语综合征主要基因的检测
Am J Hum Genet. 1984 May;36(3):586-600.
7
Neural tube malformations: complex segregation analysis and calculation of recurrence risks.神经管畸形:复杂分离分析与复发风险计算
J Med Genet. 1979 Feb;16(1):8-13. doi: 10.1136/jmg.16.1.8.

本文引用的文献

1
The familial incidence of congenital pyloric stenosis.先天性幽门狭窄的家族发病率。
Ann Eugen. 1951 Dec;16(3):260-81. doi: 10.1111/j.1469-1809.1951.tb02479.x.
2
The incidence of congenital pyloric stenosis related to birth rank and maternal age.与出生顺序和母亲年龄相关的先天性幽门狭窄的发病率。
Ann Eugen. 1951 Dec;16(3):249-59. doi: 10.1111/j.1469-1809.1951.tb02478.x.
3
Familial occurrence of congenital hypertrophic pyloric stenosis; report of cases in siblings and a cousin and review of the literature.先天性肥厚性幽门狭窄的家族性发病;同胞及表亲病例报告并文献复习
AMA Arch Surg. 1955 Jun;70(6):877-94.
4
Is the rate of hypertrophic pyloric stenosis declining?
Acta Paediatr (Stockh). 1960 Jul;49:530-5. doi: 10.1111/j.1651-2227.1960.tb07768.x.
5
The inheritance of congenital pyloric stenosis.先天性幽门狭窄的遗传
Br Med Bull. 1961 Sep;17:251-4. doi: 10.1093/oxfordjournals.bmb.a069918.
6
Infantile pyloric stenosis.婴儿幽门狭窄
Arch Dis Child. 1955 Dec;30(154):493-6. doi: 10.1136/adc.30.154.493.
7
Palpable contractile pyloric tumours in the newly born.新生儿可触及的收缩性幽门肿瘤。
Arch Dis Child. 1955 Dec;30(154):484-92. doi: 10.1136/adc.30.154.484.
8
Two-generation pyloric stenosis.两代人患幽门狭窄。
Lancet. 1954 Apr 10;266(6815):746-8. doi: 10.1016/s0140-6736(54)92713-0.
9
Congenital hypertrophic pyloric stenosis in twins.双胞胎先天性肥厚性幽门狭窄
Arch Dis Child. 1953 Oct;28(141):351-8. doi: 10.1136/adc.28.141.351.
10
Attitude survey in pregnancy.孕期态度调查
J Psychosom Res. 1968 Jun;12(1):83-4. doi: 10.1016/0022-3999(68)90012-3.