错义突变

它是位于外显子III的错义突变。

It is a missense mutation in exon III.

蒙古族X连锁先天缺失牙/头发卷曲家系EDA基因新错义突变的发现

A novel missense mutation ( R65G ) of EDA gene in a mongolian family with X-linked congenital anodontia / wavy hair

一例凝血因子ⅧB区错义突变导致重型血友病A

A novel missense mutation in the B domain of Factor ⅷ causes severe hemophilia A

用PCRRFLP方法确定p53基因249密码子的错义突变。

249 codon mutation status of p53 gene was analyzed by PCR-RFLP .

结论错义突变c.1045A>G是导致该X性连锁少汗性外胚叶发育不良家系临床表型的主要原因。

Conclusion The c.1045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia .

晶状体蛋白βB1基因错义突变引起常染色体显性遗传性白内障

Missense mutation in the β B1-crystallin gene caused autosomal dominant congenital cataract in China

限制酶分析确认：临床确诊者及其母亲为该错义突变携带者，为MH易感者。

Restriction enzyme analysis confirmed : the proband is the missense mutation carrier , MH susceptible person .

结果AD患者MTHFR/C677T错义突变的基因频率与健康老人之间无明显差异（基因型P>0.05；等位基因P>0.05），性别分组后亦未见有显著性差异存在。

Results : The frequency of MTHFR mutation of patients was no significantly difference to that of healthy controls ( genotype P > 0.05 ; allele P > 0.05 ) .

最近发现AP-2β基因的错义突变引起Char综合症。

Recently , missense AP - 2 β gene mutations were shown to cause Char syndrome .

中国人WD基因第14和18号外显子的错义突变

Missense mutations of exons 14 and 18 of Wilson 's disease gene in Chinese patients

神经铁蛋白病：FTL错义突变导致双侧苍白球早期受累

Neuroferritinopathy : Missense mutation in FTL causing early-onset bilateral pallidal involvement

位于编码区的5个SNPs中，F216L、D374Y、I474V和E670G为错义突变，V460V为同义突变。

Among the five SNPs in the coding region , four are non-synonymous mutations and one is a synonymous mutation .

活化的蛋白C抵抗的分子生物学基础是由于凝血因子Ⅴ基因一个核苷酸发生错义突变，称为Leiden突变，使因子Ⅴa对活化的蛋白C的裂解发生抵抗，患者容易发生血栓性疾病。

A commen missense mutation in the factor V gene , the Leiden mutation , renders factor Va resistant to cleavage inactivation by activated protein C and predisposes patients to thrombotic events .

编码肽酶D的PEPD基因发生纯合错义突变引发氨酰基脯氨酸酶缺乏症伴高IgE综合征

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome

目的探讨国人凝血因子Ⅴ外显子10中一个固定的错义突变（FⅤLeiden突变）发生率及其与抗心磷脂抗体（aCL）和缺血性脑血管病（ICVD）的关系。

Objective To study the prevalence of F ⅴ Leiden mutation and its relationship to anticardiolipin antibodies ( aCL ) and ischemic cerebrovascular disease ( ICVD ) .

家系III中的病人在基因CYLD的CDS区域的的2822位由腺嘌呤突变为胸腺嘧啶，发生了错义突变。通过突变检测，我们成功地克隆了多发性毛发上皮瘤的致病基因。

While in family III , a missense mutation was caused by substitution of an adenosine with a thymidine in CDS 2822 . We successfully identified the disease gene for multiple familial trichoepithelioma through mutation analysis .

其中变异1、2和4为错义突变，推测这3个错义突变对RFC的运输功能具有潜在影响力，并值得深入进行功能研究。

Variation 1,2 and 4 were missense mutations , which could had potential influence on RFC transportation and were worth further to study their function .

在另1例患者中发现第6外显子的610（GT）的无义突变和第47外显子的6679（CT）的错义突变，为一种复合性杂合突变。

A nonsense mutation of 610 ( GT ) in exon 6 combined with a missense mutation of 6679 ( CT ) in exon 47 , which was a compound heterozygotic mutation , were identified in the other patient .

结果在3个IVF家族中从SCN5A密码范围内识别了一个错义突变和一个读码突变。

Results One missense mutation and one reading frame mutation were recognized from SCN 5 A coding region in three families with IVF .

先证者3的GLA基因3号外显子内484位点存在1个错义突变，碱基T被C取代，导致其编码的第142位氨基酸由半胱氨酸变为精氨酸（484T>C，C142R）。

484 T to C transition in exon 3 ( codon 142 ), resulting in replacement of a cysteine residue by arginine ( 484T > C , C142R ) .

结果：从7个ADPKD家系，11例病人中检测到6种突变，其中无义突变2个，错义突变3个，移码突变1个。

Results : 6 mutations and 2 polymorphisms were identified , including 2 nonsense mutations , 3 missense mutations and 1 deletion mutation .

目的证实胆固醇酯转移蛋白（CETP）基因15外显子错义突变（442D∶G）是导致高α脂蛋白血症的重要因素之一。

Objective To validate that the exon 15 missense mutation ( 442D ∶ G ) of CETP gene plays an important role in the induction of hyperalphalipoproteinemia .

目前发现与HHT有关的不同的突变有129个，其中有79个与ENG基因突变有关，50个与ALK-1基因突变有关。ENG基因或ALK-1基因的突变有错义突变、无义突变、剪接点突变。

About 129 different HHT-related mutations have been reported so far , 79 in ENG and 50 in ALK-1 , including missense , nonsense , frameshift , splice-site .

DSH家系中患者ADAR基因存在错义突变（2879A→G），这可能是导致DSH发病的分子机制之一。

A missense mutation ( 2879 A → G ) in ADAR gene is detected in the DSH family , which is probably one of the molecular bases of the pathogenesis of the disease .

结果家系中1例病理确诊嗜铬细胞瘤的患者存在RET原癌基因第11外显子634密码子错义突变；

Results A missense mutation of TGC ( Cys ) to TAC ( Tyr ) at codon 634 in exon 11 of the RET proto-oncogene was detected in a patient with pheochromocytoma diagnosed by pathology .

DNA序列分析表明，这9例的早老素1基因第5外显子的136号密码子发生了GCT→GGT错义突变，使氨基酸由丙氨酸变为甘氨酸（Ala136Gly）；

DNA sequencing revealed a missense mutation of GCT to GGT in code 136 of PS 1 exon 5 , leading to the substitution of Ala with Gly ( Ala136Gly ), in these 9 persons .

RTPCR显示所有标本中都有HCP基因表达，仅在1例急性淋巴细胞性白血病细胞中发现一错义突变，发生在HCP基因氨基末端的SH2结构域；

RT PCR showed that all samples expressed HCP gene , only one missense mutation at codon 225 ( AAC to AGC , Asn to Ser ) within N terminal SH2 domain was found in an ALL patient .

结果：RB患者RB1基因的外显子4存在着错义突变，该突变发生在pRB的大袋立体结构外。

The effect of the mutation product on the function of pRB was analyzed . RESULTS : One missense mutations of the exon 4 of the RB1 gene was identified in the genomic DNA from RB patients .

该错义突变改变了IDS酶的一级结构和三级空间结构，从而可能引起IDS酶活性大大降低，这可能是该Hunter综合征患者的真正致病原因。

The new missense mutation results in a change in the primary and tertiary structure of the IDS protein . It is possible that this mutation severely impairs the enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome .

研究发现，PTPN22基因C1858T位点错义突变，引起LYP蛋白620位密码子由精氨酸突变为色氨酸，与Csk亲和力明显降低，导致T细胞活性增强，可能诱发自身免疫性疾病。

A missense mutant ( C18587T , R620W ) may decrease the binding affinity of LYP to CSK and result in higher T-cell activation and induce autoimmune disorders .