突变的

We studied the optimizaiton, accuracy and reliability of this technique by definition the genotype of five common mutation loci of β-globin gene in the carrier with CD41-42 mutation and that of β-globin gene of normal people's single lymphocyte and single blastomere.

我们采用了一种利用单细胞标本通过二重巢式PCR并结合ARMS技术确定中国人群中广泛的β-地中海贫血突变谱的基因型的策略，通过对含有β-珠蛋白基因CD41-42突变的携带者5个该基因常见突变位点基因型的确定，以及正常人的单个淋巴细胞、单卵裂球的β-珠蛋白基因该5个位点基因型的确定，对这种技术条件的优化、准确性和可靠性进行了研究。

The dose-effect is relatively ideal,and the HPRT gene mutation can be taken as a radiation biological dosimeter.

克隆法是一种检测放射性核素内、外照射诱发HPRT基因突变的方法，HPRI，基因突变剂量效应关系理想，有可能作为辐射生物剂量计。

Results In this pedigree,there are 13 people showed typical ALS symptoms,8 died of this disease,but most of them present varing period of fasciculation before onset.

结果该家系有6代、237人，其中13人患病，8人死于ALS，具典型ALS症状，但起病前有较长一段时间肌肉纤颤期。PCR-SSCP法检测SOD1基因未发现突变，为非SOD1基因突变的ALS家系。

Most families presented evidence against hMLH3 as a monogenic explanation for the familial aggregation of colorectal cancer, and most of the mutations were found in the low risk patients.

因为这些突变与疾病相关，且在散发性食管癌患者和正常对照中几乎没有此项突变的发生。

"Prophylactic oophorectomy should not be recommended to women with a high risk of breast cancer who do not have documented mutations in BRCA1 or BRCA2, since these cases may be linked to mutations in unidentified genes that do not increase the risk of ovarian cancer," he writes."The effectiveness of prophylactic oophorectomy in carriers of BRCA mutations provides a strong rationale for genetic testing in women with a strong family history of cancer."

不应该对乳腺癌发生危险较高，但没有明确的BRCA1或者BRCA2突变的女性，推荐进行预防性卵巢切除术，因为这些情况也许与未知的，与卵巢癌的发生无关的基因突变有关，」他写道：「对於BRCA突变体携带者进行预防性卵巢切除术，为有很强的肿瘤家族史的女性，进行遗传学检查，提供了强有力的依据。

No difference of the occurrence of pyemia between the normal group and the MEFV mutant group was observed.

卡方检验结果显示，MEFV基因突变组脓毒症发生率与正常组之间的差异无统计学意义(P＞0.05)，尚不能认为有MEFV基因突变的病人烧伤后的脓毒症发生率高；非条件logistic回归分析表明，年龄和烧伤面积是影响烧伤病人预后的主要因素，而是否有MEFV基因突变尚不能确定为直接的影响因素。3。

The cooperation of 8-MOP/UVA could induced dermis of the non- lesion back skin of vulgar psoriatic patients and the cultured dermic fibroblasts produced large aging-associated mutations of mtDNA rapidly, it is feasible to establish human models in vivo and in vitro which could produced large aging-assoiated mutations of mtDNA rapidly for studies of the mechanisms of mutations of mtDNA in skin photoaging.

2.8-MOP/UVA可诱导寻常型银屑病患者背部非皮损区真皮组织及培养的成纤维细胞迅速产生光老化相关的mtDNA突变，建立迅速产生光老化相关mtDNA突变的体内外模型，利用该模型进一步研究mtDNA突变在光老化皮肤中的产生机制及其在皮肤光老化形成中的作用是可行的。

MATERIALS AND METHODS: Arg to Ser mutation was introduced into the 249 position of the p53 gene by knock-in method. These ES cells with this mutation were selected according to the homologues-recombination with PCR and Southern blot. The positive ES cells without a selection marker were injected into blastocysts recovered from Hprt(superscript -/-) mice, which were derived from Hprt-deficient ES cells. The injected blastocysts then were implanted into pseudopregnant females.

材料与方法：利用基因打靶技术在小鼠胚胎干细胞p53基因249编码子中引入点突变，使编码子249由精氨酸变成丝氨酸，然后将含突变的ES细胞显微注射到Hprt小鼠囊胚中，将注射过的囊胚植入假孕的雌性小鼠子宫，到第14d取小鼠胚胎纤维母细胞，用含HAT的培养液筛选出从ES细胞分化而成的鼠EF细胞，经测序证实细胞含有由249Arg到Ser的突变。

Molecular genetic testing by targeted mutation analysis for the four common FAH mutations and sequence analysis of the entire coding region are clinically available and can detect mutations in greater than 95% of affected individuals.

分子遗传学检测（对 FAH 的四个常见突变的靶突变分析以及对整个编码区的序列分析）在临床上是可行的，这些检测能检出超过95%的患者中的突变。

The method is just like the QuikChange site-directed mutagenesis method except for its special primer. This pair of primers is composed of a long primer and a short primer which is central overlapped.Both of the Tm of 5\'sequence in long primer and Tm of 3\'sequence in short primer are above 66℃.The Tm of short primer is almost half of that of long primer.It is convenient to perform insertion or substitution mutation of DNA fragments larger than 20bp,In addition,it is highly applicable in research about the deletion mutation of DNA fragments larger than 2000bp.

我们实验室一直在寻找一种简单高效的可以用于基因的删除、插入及替代突变的方法，通过大量研究和实验发现，可以使用一种基于反向PCR原理，使用全新的引物设计的突变方法——&COP&突变法，该方法采用与QuikChange点突变法相同的操作步骤，其策略是设计一对中心重合的引物，长引物的5\'端序列和3\'端序列的Tm值均不低于66℃，短引物Tm值约为长引物一半，且与长引物中心重合互补。

The split between the two groups can hardly be papered over.

这两个团体间的分歧难以掩饰。

This approach not only encourages a greater number of responses, but minimizes the likelihood of stale groupthink.

这种做法不仅鼓励了更多的反应，而且减少跟风的可能性。