Sequence analysis showed that the OPG cDNA from L02 cells was a mutated OPG gene that had a nonsense mutation at the codon of Gln373 The OPG isoform was 8 amino acid residues less than the OPG reported at the C terminal.
这种变体基因与国外报道仅仅相差一个碱基，但这一碱基的变化形成了一个新的终止密码子，从而使这种OPG-372变体蛋白比国外报道的OPG少8个氨基酸，其中包括与同源二聚形成有关的Cys〓。
Meanwhile it is found that the nonsense mutation and its reverse are the key factors for the tree reconstruction.
此项研究还发现氨基酸与终止信号间的无义突变和其逆过程是重建进化树的关键因素。
A nonsense mutation of ADAR gene in a sporadic patient with dyschromatosis symmetrica hereditaria
1例遗传性对称性色素异常症患者ADAR基因突变研究
There was a wide spectrum of mutation type including frame shift, nonsense, splice site mutation, in frame insertion or deletion and missense mutations.
突变类型包括移码突变、无义突变、剪接异常、框架内插入或缺失以及错义突变。
Case had 1 base pair insertion TT → TAT in 85 codon and 1 base pair deletion GCA → GA, which may result in nonsense mutation.
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。
Gonadial Abnormality and Homozygous Decease from the Nonsense Mutation of Kit in W~(- 3Bao) Mouse
Kit无义突变致W~（-3Bao）小鼠生殖腺异常及纯合子贫血死亡
Results Somatic mutations were detected in 63 percent (19/30) glycogen-rich renal carcinomas including 13 deletion, 3 insertion, 2 missense and 1 nonsense mutation.
结果1930（63%）的富糖原型肾细胞癌的VHL肿瘤抑制基因发生了变异，其中包括13例缺失、3例插入、2例错译和1例无义。
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
纯合子核纤层蛋白A/C基因无义突变的致死表型
Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg 479 Stop in the ALK-1 gene
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
Results Four mutations were identified, including 1 nonsense mutation, 1 deletion mutation and 2 missense 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 8 mutations were detected from 14 cases, including 5 missense mutations, 1 synonymous mutation, 1 nonsense mutation and 1 frameshift mutation.
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。
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.
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。
Results: 6 mutations and 2 polymorphisms were identified, including 2 nonsense mutations, 3 missense mutations and 1 deletion mutation.
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。
Point mutation (missense mutation/nonsense mutation) in the coding sequence of gene is the most common type of mutation causing inherited human diseases.
位于基因编码区的点突变（错义突变/无义突变）是导致人类遗传疾病突变中最常见的类型。
Human C5 deficiency: a nonsense mutation in the first codon of the β - chain
一例人C5缺陷症：β链第一密码子无义突变
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%).
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%）。
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).
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）。
Second, pharmacological approaches that aim to modify gene expression, rather than the gene itself, have been applied to a subset of diseases where a nonsense mutation is involved.
药理学治疗的目标不是针对基因本身，而是修饰基因的表达。这种方法已被用于因某些无义突变造成的疾病的治疗中。
There is no change of amino acid. All of the mutations are nonsense mutation.
所有的点突变均为无义突变，未发现引起氨基酸的改变。
All of the mutations are nonsense mutation. These can induce the structure of protein change which needs further studies.
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。