目的分析并确定一个遗传性痉挛性截瘫2型(spastic paraplegia 2,SPG2)家系蛋白脂蛋白1(proteolipid protein 1,PLP1)基因突变与遗传学特征。方法收集先证者及其家系成员临床资料,采用聚合酶链反应和DNA直接测序方法进行PLP1基因突变检测...目的分析并确定一个遗传性痉挛性截瘫2型(spastic paraplegia 2,SPG2)家系蛋白脂蛋白1(proteolipid protein 1,PLP1)基因突变与遗传学特征。方法收集先证者及其家系成员临床资料,采用聚合酶链反应和DNA直接测序方法进行PLP1基因突变检测,确定基因突变位点,分析基因型与表型的关系。结果本家系先证者临床符合SPG2诊断。测序结果显示先证者PLP1基因第3外显子c.388C>T(p.His130Tyr)半合子改变,先证者之母为本位点的杂合改变。结论本家系SPG2先证者为PLP1基因半合子突变致病,遗传自表型正常携带者的母亲。本研究明确了本家系PLP1基因突变与遗传特征,为准确的遗传咨询和进一步的产前诊断打下了基础。展开更多
Schizophrenia(SCZ)is a serious mental illness whose etiology and pathogenesis are not yet clear.The level of miRNA may be a crucial factor in the occurrence and development of SCZ.This study found that miR-495 may reg...Schizophrenia(SCZ)is a serious mental illness whose etiology and pathogenesis are not yet clear.The level of miRNA may be a crucial factor in the occurrence and development of SCZ.This study found that miR-495 may regulate the susceptibility gene of SCZ and that proteolipid protein 1(PLP1)as a risk gene for schizophrenia may be involved in its pathogenesis.In this article we review the research progress related to hsa-miR-495-3p(miR-495),PLP1,and schizophrenia.展开更多
Schizophrenia (SCZ) is a serious mental illness with unknown etiology, high recurrence rate and high disability rate, which has caused a great burden to individuals and society. There is no clear etiology and pathogen...Schizophrenia (SCZ) is a serious mental illness with unknown etiology, high recurrence rate and high disability rate, which has caused a great burden to individuals and society. There is no clear etiology and pathogenesis. Methylation of N6-methyladenosine (m6A) can regulate the nervous and mental system, and affect the function of the nervous system. Proteolipid protein 1 (PLP1) is a risk gene for schizophrenia. In this study we review the research progress on the pathogenesis of schizophrenia, m6A methylation, and PLP1 gene.展开更多
文摘目的分析并确定一个遗传性痉挛性截瘫2型(spastic paraplegia 2,SPG2)家系蛋白脂蛋白1(proteolipid protein 1,PLP1)基因突变与遗传学特征。方法收集先证者及其家系成员临床资料,采用聚合酶链反应和DNA直接测序方法进行PLP1基因突变检测,确定基因突变位点,分析基因型与表型的关系。结果本家系先证者临床符合SPG2诊断。测序结果显示先证者PLP1基因第3外显子c.388C>T(p.His130Tyr)半合子改变,先证者之母为本位点的杂合改变。结论本家系SPG2先证者为PLP1基因半合子突变致病,遗传自表型正常携带者的母亲。本研究明确了本家系PLP1基因突变与遗传特征,为准确的遗传咨询和进一步的产前诊断打下了基础。
基金Yunnan Provincial Department of Science and Technology Project(202101AY070001-224).
文摘Schizophrenia(SCZ)is a serious mental illness whose etiology and pathogenesis are not yet clear.The level of miRNA may be a crucial factor in the occurrence and development of SCZ.This study found that miR-495 may regulate the susceptibility gene of SCZ and that proteolipid protein 1(PLP1)as a risk gene for schizophrenia may be involved in its pathogenesis.In this article we review the research progress related to hsa-miR-495-3p(miR-495),PLP1,and schizophrenia.
基金Yunnan Provincial Department of Science and Technology Project(202101AY070001-224).
文摘Schizophrenia (SCZ) is a serious mental illness with unknown etiology, high recurrence rate and high disability rate, which has caused a great burden to individuals and society. There is no clear etiology and pathogenesis. Methylation of N6-methyladenosine (m6A) can regulate the nervous and mental system, and affect the function of the nervous system. Proteolipid protein 1 (PLP1) is a risk gene for schizophrenia. In this study we review the research progress on the pathogenesis of schizophrenia, m6A methylation, and PLP1 gene.
