[生化][遺] 點突變
Conclusion:The point mutation in this area of mitochondrial DNA might not be related hereditary ataxia.
結論：遺傳性共濟失調的發生、發展可能與該區域點突變無關。
The results suggested that AIV 178 isolate was amantadine resistant, and the position 31 amino acid point mutation in M2 protein may confer the resistance.
結果表明AIV 178分離株具有對金剛烷胺的耐藥性，而且M2蛋白的第31位氨基酸突變可能與此有關。
PCR-SSCP was a convenient and efficient method to detect gene point mutation.
SSCP是檢測基因點突變的一種快速、敏感、有效的方法。
In this article, the growth regulating mechanism of chicken is discussed, The sex-linked dwarfism in chickens is due to the GHR gene mutation and point mutation and deletion are two main forms.
從雞生長調控機制出發，闡述了雞伴性連鎖矮小是由于GHR基因突變所緻，點突變和片段缺失為兩種主要方式。
The PCR products of suspected cases with the point mutation were further DNA sequenced so as to determine its mutation characters.
對疑有點突變的病例，進行DNA序列測定，以明确其具體的突變性質。
Suprisingly, a novel point mutation at codon 42 of K-ras was found, and coexisted with mutation in codon 12.
值得注意的是發現一個新的突變位點-密碼子42，并且與密碼子12突變共存。
The point mutation detection rate of hair follicles was higher than that of blood. So, hair follicles have the potent clinical application value for the genetic analysis of mitochondrial diseases.
毛球标本的線粒體點突變檢測率高于血液，因此線上粒體相關疾病的基因分析中具有較高的臨床應用價值。
Point mutation was produced in the cellular receptor binding region of hepatitis A virus VP1 based on PCR directed mutagenesis.
利用PCR引導的基因突變技術，對位于甲型肝炎病毒農殼蛋白VP1上的細胞受體結合區進行氨基酸定點突變。
The mutations in patients with factor V deficiency were identified including point mutation, frameshift mutation, deletion and insertion mutation.
本課題在對具有先天性出血傾向的門診患者進行篩查的過程中，發現了一例重型凝血因子V缺乏症患者。
Based on the number of restriction enzyme detecting RFLPs, most of mutations were attributed to point mutation.
根據揭示多态性的限制性内切酶的數量可将産生的突變大多歸為點突變。
AIM:To investigate the relationship between the point mutation of ABCB4 gene and intrahepatic cholestasis of pregnancy (ICP).
目的：探讨ABCB4基因點突變與妊娠期肝内膽汁淤積症（ICP）發病的關系。
ResultsThere was a single heterozygous point mutation in KRT10 gene, i. e. 2140 G→A of KRT10, leading to an amino acid alteration of arginine to histidine (KRT10 R156H).
結果該家系2例患者存在KRT10基因的雜合點突變，即在KRT10基因第2140位G→A，導緻其第156位的精氨酸變為組氨酸（R156H）。
This single- point mutation engages the leg- ****** apparatus of the embryo fly to build a leg where its antenna should be .
這個單點突變攪亂了果蠅胚胎的足肢生成裝置，在原本應該是觸角的地方生出一條腿來。
Twenty cases(20/31) were selected randomly for DNA sequencing. No point mutation of ABCB4 gene exon 23 were detected.
隨機挑選20例标本測定外顯子23的DNA序列，未發現點突變。
Conclusion The site specific point mutation system can modify human gene in vitro more accurately. It is useful in the setting up of animal models.
結論體外定點突變系統可以對基因進行精細的修飾，為建立更精确地模拟人類疾病的動物模型打下基礎。
Missense mutation A point mutation that causes a change in one amino acid of a protein.
錯義突變引起蛋白質中一個氨基酸變化的點突變。
In a point mutation, a single letter of the genetic code changes to another letter.
在單位點突變種，一個遺傳編碼的字母換成了另外一個。
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.
目的對廣東地區漢族人群的甘露聚糖結合凝集素結構基因第一外顯子第54位密碼點突變（GGC54GAC）進行初步篩查。
Result:We had not found point mutation in all subjects.
結果：所有對象均未檢測到點突變。
Objectives To investigate whether Parkinson disease (PD) is associated with genetic polymorphisms of catechol O methyltransferase (COMT) gene caused by the point mutation of G1947→A in exon 4.
目的探讨兒茶酚胺氧位甲基轉移酶（COMT）基因G1947→A位點突變所緻的基因多态性與帕金森病（PD）遺傳易患性的關系。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
目的：探讨ABCB4基因外顯子23點突變與妊娠期肝内膽汁淤積症（ICP）發病的關系。
Applying RNase Protection assay, the point mutation in the RB gene was observed.
運用核酸酶保護試驗觀察RB基因的點突變現象。
Long term regular monitoring of ABL kinase point mutation is necessary during imatinib treatment.
定期監測ABL激酶區點突變有助于及早采取幹預治療，提高療效。
In BCR-ABL fusion gene negative myeloproliferative diseases, the discovery of JAK2V617F point mutation is an important landmark.
在BCR-ABL陰性的骨髓增殖性疾病的發病機制中，JAK2V617F點突變的發現是一個重大的突破。
To reach this goal, the following ways such as chemical modification, gene fusion, point mutation and delivery systems revolution are reviewed.
綜述了幾種多肽藥物常用的長效改造方法如化學修飾、基因融合、點突變以及藥物制劑釋放系統的改造。
Out of other 6 IMF patients without JAK2V617F point mutation only 1 patient had thrombosis, and lower counts of platelets in perepheral blood and megakaryocytes in bone marrow.
另6例JAK2V617F點突變陰性患者僅1例有血栓史，血小闆數目及骨髓巨核細胞數目相對較低。
These results suggested that the nature of mutation on the DNA level was probably large geneic changes rather than point mutation.
研究顯示，高能重離子輻射誘導的變異主要是DNA分子較大的改變，而非點突變。
點突變（point mutation）是DNA分子中單個核苷酸堿基對的改變，屬于基因突變的最小單位。這類突變通常由DNA複制錯誤、化學誘變劑或輻射等因素引起，可能導緻蛋白質結構或功能的改變，進而影響生物性狀或引發疾病。
根據對遺傳信息的影響，點突變可分為三種類型：
點突變的分子機制包括：
在醫學研究中，點突變檢測是遺傳病診斷和癌症研究的重要手段。例如《新英格蘭醫學雜志》曾報道通過檢測EGFR基因點突變可指導肺癌靶向治療選擇。當前基因測序技術（如Sanger測序和二代測序）能精準識别單堿基變異。
（參考資料：美國國家生物技術信息中心《基因突變分類》、Scitable《分子遺傳學基礎》、《自然》期刊癌症基因組學研究）
Point mutation（點突變）是遺傳學中常見的突變類型，指DNA序列中單個核苷酸（堿基）發生改變的現象。以下是詳細解釋：
若某DNA序列原始為： $$ text{ATG CGA TAC} $$ 發生點突變（G→T）後變為： $$ text{ATG CTA TAC} $$ 這将改變對應的mRNA密碼子（CGA→CUA），導緻精氨酸→亮氨酸的錯義突變。
點突變的最終影響取決于突變位置和類型，部分可能無害，部分則引發顯著表型變化。
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