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No deletion or point mutation in acrAB gene were found in Mar and susceptible clinical Escherichia coli isolates. 多重耐药株以及敏感株acrAB基因扩增产物无点突变和缺失。
The positive rates of HBV site 1896 point mutation are relatively higher in CAH and ALH than that in HCC patients. CAH和 ALH患者检出率较高 ,而 HCC患者检出率较低 ,说明 HBV突变与HBV在人体持续感染及感染后病情恶化有关 ;
The style of K-ras gene point mutation at codon 12 was GAT in human pancreatic cancer cell line. 人胰腺癌细胞株PANC-1存在K-ras基因的点突变,其突变方式为CAT。
Detection of keratin 5 gene point mutation in a family with Weber Cockayne EBS by PCR and direct DNA sequencing. PCR-DNA直接测序检测1例单纯型大疱性表皮松解症Weber-Cockayne亚型(WC-EBS)患者角蛋白K5基因点突变
No point mutation of FHIT gene exon 5 and exon 8 was found in 30 cases of tumor tissues. 所有胃癌组织标本均未检测到外显子5,8的点突变。
Conclusion:The point mutation in this area of mitochondrial DNA might not be related hereditary ataxia. 结论:遗传性共济失调的发生、发展可能与该区域点突变无关。
No ABCB4 gene exon 6 and exon 14 deletion and point mutation were detected by PCR and PCR-SSCP, respectively. 对所有外显子6及外显子14的PCR产物进行SSCP筛查，无异常发现。
Besides, sequence analysis demonstrated a new point mutation of at codon 159 (L159R) in all affected family members. 此外，以基因定序分析研究发现所有家族病患均有一个新的点突变L159R。
He wrote, "we are likely to have been reached before, I have been talking about a point mutation. 他写道，“我们现在很可能已经到达了我之前一直在谈论的变异点。
Here, we report a three-generation Chinese family with a point mutation in the MITF gene causing WS2. 先证者表现为先天性重度感音神经性聋、虹膜异色、面部雀斑;
Objective To detect the expression and point mutation of PTEN gene in bladder cancer. 目的检测抑癌基因PTEN在膀胱癌组织中的表达和突变情况。
K ras gene point mutation at codon 12 was found in human pancreatic carcinoma cell line PC 2, and the mutation style was CGT. 人胰腺癌细胞株PC 2存在K ras基因点突变 ,突变方式为CGT。
A point mutation of ATG(Met) to ACG(Thr) at codon 918 in exon 16 of RET protooncogene was detected in this patient,but no such mutation in the parents. 检测到患者RET原癌基因第 16外显子 918密码子存在ATG(Met) /ACG(Thr)点突变 ,而在患者父母中未检测到该突变。
Objective To screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong. 目的对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第54位密码点突变(GGC54GAC)进行初步筛查。
The PCR products of suspected cases with the point mutation were further DNA sequenced so as to determine its mutation characters. 对疑有点突变的病例，进行DNA序列测定，以明确其具体的突变性质。
In BCR-ABL fusion gene negative myeloproliferative diseases,the discovery of JAK2V617F point mutation is an important landmark. 在BCR-ABL阴性的骨髓增殖性疾病的发病机制中,JAK2V617F点突变的发现是一个重大的突破。
A rapid and simple point mutation genotyping method is developed based on polymerase specific extension and duplex inseting dye. 摘要利用聚合酶延伸技术及双链特异性嵌入染料的特性，建立了一种快速简便的基因点东突变的检测方法。
Conclusion Point mutation in STK11 may be chief in Chinese with PJS and the frequency of mutation was fewer than that in previous reports. 结论 STK11基因在中国人PJS患者中可能以点突变为主，突变发生率较国外报道低。
Results Among the 130 cases of primary amenorrhea, 33 had abnormal karyotypes.A point mutation at exon 7 of GHRHR gene was found in one patient. 结果有33例原发闭经患者出现染色体核型异常，1例出现GHRHR基因点突变，且该突变位点在第7个外显子中。
Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase(PAH)gene of the patients with phenylketonuria(PKU)in Xinjiang. 目的分析新疆地区苯丙酮尿症(PKU)患者中苯丙氨酸羟化酶(PAH)基因第11、12外显子点突变。