无义突变

两个家系中X连锁视网膜色素变性的RP2基因无义突变

Identification of a nonsense mutation causing X-linked RP 2 in two Chinese families

一例人C5缺陷症：β链第一密码子无义突变

Human C5 deficiency : a nonsense mutation in the first codon of the β - chain

检出的由单个碱基替换而导致的无义突变都发生在CpG岛，表现为C向T的转换。

All of four nonsense mutations resulted from C to T transitions at CpG sites .

Kit无义突变致W~（-3Bao）小鼠生殖腺异常及纯合子贫血死亡

Gonadial Abnormality and Homozygous Decease from the Nonsense Mutation of Kit in W ~ ( - 3Bao ) Mouse

结果DNA序列分析表明融合基因的连接顺序、方向正确，有一个碱基发生了无义突变。

DNA sequence analysis showed that the splicing order and direction were completely correct . There was one base mutation but amino acid radicle which encoded was not changed .

结论无义突变可能与CTL的免疫压力有关。

Conclusion The amber mutations and persistent amino acid transitions may be related to the immune escape .

由此可见，反义PNA有可能在靶基因区域显著性抑制无义突变。

Thus , it is possible to significantly suppress nonsense mutations within target genes using antisense PNAs .

该组的三个突变体等位基因的突变都是无义突变，它们都破坏了。Xt基因的编码区。

The nature of all the three mutant alleles of this group is nonsense mutation disrupting the coding region of oxt gene .

1例85密码子第2、3碱基之间插入A，同时86密码子第2碱基缺失，即GCA→GA导致无义突变。

Case had 1 base pair insertion TT → TAT in 85 codon and 1 base pair deletion GCA → GA , which may result in nonsense mutation .

结果：所克隆的icl序列出现一个碱基突变，为无义突变。

The enzyme activity of ICL was assayed . RESULTS : A nonsense mutation occurred in icl sequence amplified by PCR .

具有HLAA2的感染者W，Z部分氨基酸序列中该表位的起始密码子发生无义突变，测序资料中包含稳定的变异位点的肽段，符合MHC结合肽的基序（motif）。

In the HLA A2 positive individuals , some of the sequences showed amber mutation on the initial codon of the epitope . Peptides with persistent amino acid transitions contained MHC binding peptide motif .

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 .

ALK-1基因无义突变Arg479Stop导致的遗传性出血性毛细血管扩张症

Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg 479 Stop in the ALK-1 gene

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 .

结论：发现中国人种恶性高热患者RYR1基因新的突变位点，且均为无义突变，可以引起蛋白质结构和功能的改变，其机制尚需进一步研究。

All of the mutations are nonsense mutation . These can induce the structure of protein change which needs further studies .

结果19例病例中有11例（13个突变点）发生APC突变，发生率为58%（11/19），其中移码突变9个，无义突变4个，移码突变占多数（69%）。

Results Eleven cases with thirteen mutations were determined . The frequency of APC mutation was 58 % ( 11 / 19 ) . The exhibiting mutations consisted of 9 frameshift mutations and 4 nonsense ones , indicating the existence of more frameshift mutations ( 69 % ) .

另1例WAS患儿WASP基因第11外显子，第1388位核苷酸由G替换为T（1388G→T），为无义突变，使第452位密码子提前变为终止密码（E452X）。

For another WAS patient , a nonsense mutation with nucleotide substitution of G to T at position 1388 ( 1388G → T ) in exon 11 of WASP gene , led to premature translational termination at amino acid position 452 ( E452X ) .

结论该遗传性对称性色素异常症家系中的患者存在DSRAD基因的无义突变。

Conclusion A nonsense mutation is found in the Chinese DSH family .

有两种方法被用于治疗无义突变引起的疾病。

There are two approaches to directly overcome disease caused by nonsense mutations .

纯合子核纤层蛋白A/C基因无义突变的致死表型

The lethal phenotype of a homozygous nonsense mutation in the lamin A / C gene

所有的点突变均为无义突变，未发现引起氨基酸的改变。

There is no change of amino acid . All of the mutations are nonsense mutation .

无义突变或点突变；

Missense mutation or point mutation ;

一种新的β－地中海贫血基因&密码子37无义突变

A novel nonsense mutation in a β - thalassemia gene : β￣( 37 ) tgg → tag

无义突变能导致肌无力和囊肿纤维化等疾病。

Duchene 's muscular dystrophy and cystic fibrosis are examples of hereditary diseases that result from nonsense mutations .

结果从48例中成功检测到4种突变，包括1种无义突变、1种移码突变、2种错义突变。

Results Four mutations were identified , including 1 nonsense mutation , 1 deletion mutation and 2 missense mutations .

在这4个突变中有3个是无义突变，不造成氨基酸的改变，但有1个碱基的突变使谷氨酸变为赖氨酸。

Four bases of LTA gene were changed , but only one base results amino acid substitution from glutamic acid to Lysine .

结论层粘蛋白α链基因第803位和第2074位的无义突变引起神经纤维异常发育。

Conclusion The mutation in 803 and 2074 loci of laminin α - chain gene resulted in the abnormal development of the nervous system .

结果96例中有14例发现了8种突变，5种错义突变，1种同义突变，1种无义突变，1种移码突变。

Results 8 mutations were detected from 14 cases , including 5 missense mutations , 1 synonymous mutation , 1 nonsense mutation and 1 frameshift mutation .

结论板层状鱼鳞病患者转谷氨酰胺酶1的活性完全缺失，是其转谷氨酰胺酶1基因的无义突变，引起编码的蛋白缺陷。

Conclusions The proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity , which is resulted from a truncated transglutaminase1coded by the homozygous mutant TGM1gene .