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- Keywords Chinese population Mannose-binding protein Exon 1 Gene sequence; 中國人;甘露糖結合蛋白;第1外顯子;基因序列;
- One of exon 1 homozygous loss of allele of nm23-H1 gene was observed in HCC tissue. 肝癌組織中有1例nm23-H1基因第1外顯子純合缺失;
- The results indicated that the ESR gene was highly conserved among mammals, and exons 1 and 4 may not be the functional domains that affect the high prolificacy in goats. 哺乳動(dòng)物ESR基因外顯子1、4序列保守性強，該區域可能不是影響山羊高繁殖力的功能結構域。
- The polymorphism of exon 1 of myogenin (MYOG) gene in Small Tail Han sheep, Hu sheep, Dorset sheep and Suffolk sheep was analyzed by PCR-SSCP. 采用PCR-SSCP技術(shù)分析了肌細胞生成素(myogenin,MYOG)基因外顯子1在小尾寒羊、湖羊、多賽特羊和薩?？搜?個(gè)綿羊品種中的多態(tài)性。
- The GG geneotype of the CTLA-4 gene at position 49 in exon 1 plays an important role in GD patients accompanied with GO. CTLA-4外顯子1第 17密碼子49位點(diǎn) A/G 二態(tài)性 GG 基因表型可能是 GD 患者伴發(fā)突眼的重要因素。
- Serum levels of MBL are influenced by three point mutations in exon 1 and further modulated by the polymorphisms in the promoter region of MBL gene. 血清MBL濃度受其結構基因第一外顯子幾個(gè)點(diǎn)突變的影響和啟動(dòng)子區多態(tài)性的調控。
- High sense mutation of HVR 1 gene was found. （4）HVR1基因有義突變率相當高。
- Mutations in the ABCA 1 gene cause Tangier disease. ABCA 1基因的突變引起Tangier病 (TD)。
- The polymorphism of exon 2 and partial sequence of exon 1 of gonadotropin releasing hormone receptor(GnRHR) gene in Small Tail Han sheep and Dorset sheep was analyzed by PCR-SSCP. 采用PCR-SSCP技術(shù),用兩對引物分析了GnRHR基因外顯子2和外顯子1部分序列在小尾寒羊、多賽特羊2個(gè)綿羊品種中的多態(tài)性。
- The frequencies of CGT52TGT,GGC54GAC and GGA57GAA mutant alleles in exon 1 of MBL structural gene are 0,0.168 and 0 respectively in the Chinese Uyghur population. 維吾爾族人群MBL結構基因CGT52TGT、GGC54GAC和GGA57GAA點(diǎn)突變的頻率分別為0、0.;168和0。
- Methods The number of CAG repeats in exon 1 of the AR gene was measured in 37 PC tissues by PCR-SSCP analysis, and its association with stages and grades of PC determined. 方法運用聚合酶鏈反應-單鏈構象多態(tài)性分析法（PCR-SSCP），對37例PC標本的AR基因CAG微衛星數量進(jìn)行測定，并進(jìn)行不同病變期別、分化級別間的比較及統計學(xué)分析。
- Results: A polymorphisms of exon 20 of PARP????1 gene was detected in 320 Han people by PCR????SSCP, no abnormal bands were observed from the analysis of PCR????SSCP in other exons. 基因檢測能有效篩查基因突變攜帶者，可以為進(jìn)一步鑒定該突變功能上的意義提供基礎的分子遺傳學(xué)資料，因而具有重要的意義。
- Over expression of PAI 1 gene leads to mesangial ECM accumulation. 首次建立了系膜細胞PAI 1的過(guò)度表達體系 ,證實(shí)細胞過(guò)度表達PAI 1可以直接導致ECM的積聚。
- The carnosinase 1 gene produces an enzyme called carnosinase. 肌肽酶1基因翻譯表達肌肽酶。
- Mutations affect all exons, especially the 30-end of exon 5, which codes the bioactie C-terminal fragment, and the 30 half of exon 1. 突變影響所有的外顯子，尤其是外顯子5的3'末端和外顯子1的后半部分，外顯子5編碼具有生物活性的碳端片斷。
- The distribution of CTLA-4 gene exon 1 49 A/G genotypes exhibited significant difference between PBC patients and controls (P=0.006), and the frequency of G allele showed a significant increase in PBC group as compared with controls (P=0 0046, OR=1.8). PBC患者 CTL A- 4第 1外顯子區第 4 9等位基因分布與正常對照組比較差異非常顯著(zhù)(P=0 .;0 0 6 );PBC患者 G等位基因頻率明顯高于正常組 (P=0
- Objective To investigate the frequencies of three point mutations,CGT52TGT,GGC54GAC and GGA57GAA,in exon 1 of mannan-binding lectin(MBL)structural gene in Chinese Uyghur population. 目的了解我國維吾爾族人群甘露聚糖結合凝集素(MBL)結構基因外顯子1第52、54和57位密碼點(diǎn)突變(CGT52TGT、GGC54GAC和GGA57GAA)的情況。
- GCH 1 gene mutation is only one of reasons to the DRD patients onset. GCH-1基因突變只是部分DRD患者的發(fā)病原因。
- Conclusion: No correlation was found between MSX1 genes in exon 1 and nonsyndromic cleft lip with or without cleft palate. 結論：同源異型盒基因MSX1多態(tài)性、孕婦吸煙與非綜合征性唇腭裂發(fā)生無(wú)相關(guān)性；
- There were the positive results of PCR SSCP in the exon 7 of p53 of BEAS TE, exon 8 of p53 of BEAS STE, and exon 1 of p16 of both exposed cells, but there were only the suspicious positive results showed in the exon 1 of both exposed cells. SSCP結果陽(yáng)性的有BEAS TE細胞p5 3第 7外顯子 ,BEAS STE細胞p5 3第8外顯子以及這二種細胞的p16基因第 1外顯子 ; Ki ras基因第 1外顯子的結果僅為可疑陽(yáng)性。
