外显率

结论：证实EXT为常染色体显性遗传病，本组外显率为97%。

Conclusion : EXT is an autosomal dominant disorder and the penetrance is 97 % in this report .

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。

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 .

人群中，大部分遗传性白内障是外显率较高的常染色体显性遗传，但也有X连锁和常染色体隐性遗传存在。

It is usually inherited as an autosomal dominant trait , although autosomal recessive and X-linked inheritance are seen less commonly .

在重组率为0.080，外显率为50%时，获得最大两点LOD值总和为1.227。

Another maximum two-point LOD score of 1.227 was obtained at recombination rate of 0 . 085 with 50 % penetrance .

线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析

Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation

但是，GD并不遵循典型的孟德尔式遗传，其遗传易感性可能由多个外显率不同的基因所决定，并受环境因素的影响，这就给GD易感基因的研究带来了很大困难。

However , GD does not exhibit a simple Mendelian inheritance , its susceptibility may be determined by several genes with different penetrances , and affected by environmental factors .

结论：收集的5个家系均为非综合征型常染色体显性遗传HGF，且疾病外显率高，表现度变异大。

Conclusion : Hereditary gingival fibromatosis in our study is dominantly inherited and presents mainly as non-syndromic form , with high penetrance and variable expressivity .

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。

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 .

Singh对9个GEFS+家庭的家系分析也表明为常染色体显性遗传，外显率约为50%-60%。

Singh on 9 GEFS + family pedigree analysis also shows that for the autosomal dominant inheritance , Singh have analysis 9 GEFS + family also shows that there are autosomal dominant inheritance , penetrance rate is about 50 % - 60 % .

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。

The penetrance and the age of males decreased with the generation .

病例对照分析法样本容量及基因外显率参数的估计方法

Estimating Sample Size and Penetrance Parameters for Case-Control Design of Candidate-Gene Associations

在人群中的发病率为1～3／30000，遗传外显率为80～94%。

The incidence of VWS is 1-3 / 30000 , penetrance is 80-94 % .

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。

The suitable nuclear gene type is very important to raise the penetrance of multi-ovary .

综合分析表明，甘蓝型黄籽油菜黄籽外显率应在85%以上，才能作为育种选择对象和高油分含量的菜籽色泽检测指标。

This can be on index for breeding yellow seed variety with higher oil content .

白菜型油菜黄籽外显率与脂肪酸、氨基酸含量的典型相关分析

Canonical correlation of yellow-seed percentage of B.Campestris to the content of fatty acids and amino acids

该基因的外显率很低，通常纯合系统在20%～70%。

Its genetic penetrance is low , being about 20 % ~ 70 % in the pure system .

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。

RESULTS : Of the family investigated , an autosomal dominant inheritance mode with high penetrance and variable expressivity was suggested .

目的分析山西地区线粒体DNA11778位点突变者外显率。

Objective To analyze the penetrance of Leber hereditary optic neuropathy ( LHON ) individuals with mitochondrial DNA 11778 mutation in Shanxi .

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。

Although previous hybridization tests proved that polydactyly trait belonged with an autosomal dominant inheritance but the penetrance is difference in offspring populations .

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。

The contribution of these mutations to breast cancer risk within any specific population is a function of both their prevalence and their penetrance .

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。

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 .

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；

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 .

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。

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 .

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。

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 .

RET基因13外显子突变率为16.7%（5/30）。

The Exon 13 of RET proto-oncogene mutation rate in sporadic HD patient was 16.7 % ( 5 / 30 ) .

结论在DEN诱发的启动模型和肝癌模型中p53基因突变可发生于大鼠肝癌变之癌前及肝癌形成阶段，且第6外显子突变率低。

Conclusion p53 gene mutation could occur in precancerous stage as well as in HCC with a low frequency in both Solt-Farber model and DEN-induced liver cancer model .

结果p53基因第5~8外显子总突变率为48.94%（23/47）。

Results Mutation rate of p53 exons 5 ~ 8 was 48.94 % ( 23 / 47 ) .

其中第6外显子的突变率最高为17.02%，其次为第8外显子，突变率为12.87%；

Exon 6 was found with the highest mutation rate of 17.02 % , exon 8 with the second rate of 12.87 % .