The contribution of these mutations to breast cancer risk within any specific population is a function of both their prevalence and their penetrance. 这些突变对不同特殊人群的乳腺癌风险的影响是它们患病率及外显率的作用。
Estimating Sample Size and Penetrance Parameters for Case-Control Design of Candidate-Gene Associations 病例对照分析法样本容量及基因外显率参数的估计方法
The frequency, under given environmental conditions, with which a specific genotype is expressed by those individuals that possess it. The contribution of these mutations to breast cancer risk within any specific population is a function of both their prevalence and their penetrance. 外显率(基因)具有特定遗传基因的个体在一定环境下表现其遗传基因的概率这些突变对不同特殊人群的乳腺癌风险的影响是它们患病率及外显率的作用。
Mechanisms of antibiotics resistance includes: ( 1) target site modification;( 2) production of inactive enzymes;( 3) decrease of drugs penetrance;( 4) expression of efflux pumps. 抗菌药物耐药机制包括:(1)靶位修饰;(2)产灭活酶;(3)药物渗透力下降;(4)外排泵表达。
The suitable nuclear gene type is very important to raise the penetrance of multi-ovary. 因此,欲提高小麦多子房性状表达的外显率,选择合适核型至关重要。
We examined three families and suggest that it has an autosomal dominant trait with incomplete penetrance. 我们研究了三个家庭,并表明,它有一种常染色体显性不完全外显。
It has marked inhibiting effects on increased penetrance of the peritoneal capillaries of mice, on egg-white induced swelling of toes of the rats, and on swelling of the pinnae of the mice which were induced by croton oil. 其对小鼠腹腔毛细管通透性增高、蛋清诱发大鼠足跖肿胀及巴豆油诱发小鼠耳廓肿胀均有显著的抑制作用:且急性毒性和长期毒性实验显示该药对血液系统、各脏器均无异常影响。
Polymorphism of low penetrance genes, one of the important material foundations for genetic susceptibility, is associated with breast cancer occurrence in special population. 低外显基因的多态性改变是遗传易感的重要物质基础之一,与特定人群乳腺癌的发生具有相关性。同时,基因多态性的存在,可能会赋予个体对某种特殊的环境因素易感。
Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation 线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析
Results Hereditary pancreatitis was a rare type of pancreatitis, with an estimated penetrance of 80%, and was believed to be caused by a mutation in the cationic trypsinogen gene. Patients with hereditary pancreatitis had a high frequency of pancreatic cancer. 结果遗传性胰腺炎是胰腺炎的一种罕见类型,是一种有80%外显率的常染色体显性遗传病,其发病被认为是阳离子胰蛋白酶原基因突变所致,此类患者是胰腺癌的高发人群。
The incidence of VWS is 1-3/ 30000, penetrance is 80-94%. 在人群中的发病率为1~3/30000,遗传外显率为80~94%。
The majority ( 83.94%) showed sporadic cases, and autosomal dominant inheritance was in 14. 60%, including 3. 16% with a high penetrance and 11. 44% with a low penetrance. 60个(14.60%)家系符合常染色体显性遗传,其中13个(3.16%)为高外显率,47个(11.44%)为低外显率;
Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97% in this report. 结论:证实EXT为常染色体显性遗传病,本组外显率为97%。
The simple segregation analysis indicated that the segregation ratio of PCOS trait in siblings was 0.3023, the complex segregation analysis indicated that it fitted in with the inheritance model of co dominant disorder with full penetrance and sporadic cases. 简单分离分析显示PCOS在子代的分离比为0.3023,综合分离分析显示其符合共显性完全外显有散发遗传模型,纯合致病基因率频为0.046。
RESULTS: Of the family investigated, an autosomal dominant inheritance mode with high penetrance and variable expressivity was suggested. 结果:收集的1个3代非综合征型缺牙家系符合常染色体显性遗传,疾病外显率高,但表现度极不一致。
Its genetic penetrance is low, being about 20%~ 70% in the pure system. 该基因的外显率很低,通常纯合系统在20%~70%。
Conclusion: The simple congenital microcornea is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance, and has a certain extent of the penetrance and the expressivity. 结论单纯性先天小角膜是由DNA损伤引起的人类表型缺陷,该病症符合常染色体显性遗传,具有一定的外显率和表现度,且表现度与性别有关。
AIM: To investigate the vertical relation of tic disorder with genomic imprinting, and to explore whether there is sex difference in its penetrance. 目的研究抽搐性运动障碍与遗传印迹的垂直传递的关系,探讨其外显率是否存在性别差异。
The main inherited mode is autosomal dominant trait with high penetrance, rare autosomal recessive. 遗传方式以外显完全的常染色体显性遗传为主,少数病例为隐性遗传。
Outline lighting, projection lighting, internal penetrance lighting and intelligent lighting were introduced. 重点介绍轮廓照明、投光照明、内透照明和智能照明。
These low penetrance genes involved in a wide variety of functions including steroid hormone metabolism, detoxification of environment carcinogens, DNA damage repair are associated with breast cancer happen. 这些低外显基因可通过参与类固醇性激素的代谢,环境致癌物质的解毒作用,以及DNA损伤修复等多种途径参与乳腺癌的发生。
The penetrance and the age of males decreased with the generation. 男性外显率有逐代降低,患者发病年龄随传代数增加呈现遗传早发现象。
In addition, given certain estimation precision, sample size and ratio of controls to cases are decided by the values of true penetrance and frequency of the target genotype. 另外,为了达到一定的估计精度要求,病例对照样本的容量以及对照病例比的取值与目标基因型在人群中的真实疾病外显率以及基因型频率等因素有关。
Because of incomplete penetrance leading to a variety of clinical phenotype and passive carriers that are not clinical symptoms, Singh and other advocates want to use complex multi-genetic inheritance to explain the phenotypic heterogeneity of GEFS+ features. 由于有不完全外显率导致临床的各种表型及一些没有临床症状的被动携带者,Singh等主张以复杂性多基因遗传来解释GEFS+表型异质性的特性。
The asymptomatic parents were found from one symptomatic member V1, which suggested incomplete penetrance of the mutation. 而患者(V1)双亲都无症状,提示该突变基因存在外显不全。
There is no intrinsic causal fixed relationship between genotype and phenotype due to incomplete penetrance. 由于表型的不全外显,基因型和表型之间无固定内在因果模式。
Although previous hybridization tests proved that polydactyly trait belonged with an autosomal dominant inheritance but the penetrance is difference in offspring populations. 已有杂交试验证明鸡多趾性状为常染色体显性遗传但外显率不同。