CAJ | 학술논문

目的分析1个May-Hegglin异常(May-Hegglin anomaly,MHA)家系的表型特点及非肌性肌球蛋白重链9基因(MYH9)突变的类型.方法对先证者及其家系成员进行详细的临床检查和血细胞镜检等实验室检查.采集家系成员的外周血,提取基因组DNA.用PCR技术扩增先证者MYH9基因第10、25、26、30、38、40外显子,测序并分析PCR产物的核苷酸序列.确定突变位点后,利用1对错配引物分别扩增家系中的其余患者及正常成员的对应基因区域,之后进行PCR扩增片段的TaqⅠ限制性内切酶琼脂糖凝胶电泳图谱分析,以资对照和鉴定.结果本家系中MHA患者具有典型的“血小板减少、巨大血小板、粒细胞包涵体”三联征.所有患者在MYH9基因的第38外显子第5521位核苷酸均存在杂合错义突变c.5521G＞A(p.Glu1841Lys),且该突变与疾病表型共分离.结论该MHA家系的致病基因为MYH9.c.5521G＞A突变为中国人群的一个突变热点.
목적 분석1개May-Hegglin이상(May-Hegglin anomaly,MHA)가계적표형특점급비기성기구단백중련9기인(MYH9)돌변적류형.방법 대선증자급기가계성원진행상세적림상검사화혈세포경검등실험실검사.채집가계성원적외주혈,제취기인조DNA.용PCR기술확증선증자MYH9기인제10、25、26、30、38、40외현자,측서병분석PCR산물적핵감산서렬.학정돌변위점후,이용1대착배인물분별확증가계중적기여환자급정상성원적대응기인구역,지후진행PCR확증편단적TaqⅠ한제성내절매경지당응효전영도보분석,이자대조화감정.결과 본가계중MHA환자구유전형적“혈소판감소、거대혈소판、립세포포함체”삼련정.소유환자재MYH9기인적제38외현자제5521위핵감산균존재잡합착의돌변c.5521G＞A(p.Glu1841Lys),차해돌변여질병표형공분리.결론 해MHA가계적치병기인위MYH9.c.5521G＞A돌변위중국인군적일개돌변열점.
Objective To analyze clinical features and mutation in MYH9 gene for a family featuring autosomal dominant May-Hegglin anomaly.Methods Clinical and pathological features of all family members were analyzed.Blood samples were collected from the proband and other family members,and genomic DNA was extracted.Potential mutations of MYH9 gene exons 10,25,26,30,38 and 40 were screened with PCR and direct sequencing.After a mutation was identified in the proband,other affected members as well as healthy members from this family were analyzed with a pair of primers to amplify the mutant site.The PCR products were digested with Taq Ⅰ enzyme and analyzed with agarose gel electrophoresis.Results All affected members had bleeding tendency and typical features including giant platelets,thrombocytopenia and characteristic D(o)hle body-like leukocyte inclusions.A heterozygous missense mutation c.5521G＞A (p.Glu1841Lys) in exon 38 of the MYH9 gene was identified in all affected members from this family.Conclusion The variant,c.5521G＞A (p.Glu1841Lys) of MYH9,has cosegregated with the phenotype in the family.The mutant site is a hot spot in Chinese population.