一个遗传性FXIII缺乏症家系的mRNA转录的表达

Transcriptional levels of different fragments of F13 subunit A in a congenital F13 deficient family

目的:观察F13基因缺陷对F13转录表达的影响,从而了解F13基因缺陷与F13功能不足的关系。方法:采用RT-PCR法对一个遗传性F13基因缺乏症家系的FXIIIA亚基mRNA转录表达水平进行分析。结果:家系不同成员中FXIIIA亚基mRNA的不同片段的转录水平存在差异。FXIIIA亚基mRNA片段1和片断2的水平在携带双重基因突变杂合子基因的先证者及其弟中明显低于在其父母中;FXIIIA亚基mRNA片段3的水平在整个家系中无明显差异。结论:复合杂合子基因中双重基因突变导致FXIIIA亚基mRNA转录表达异常,不能表达足量正常的FXIIIA亚基,导致FXIII缺乏症。

Objeetive： To observe the transcriptional levels of different fragments of FXIII subunit A （FXIIIA） in a congenital F13 deficient family for better understanding the relationship between F13 gene defects and the malfunction of FXIII. Methods： RT-PCR was used to determine the mRNA levels of different fragments of FXIIIA in the serum from the F13 deficient family members. Results： The mRNA of different FXIIIA fragments was detected predominantly among the family members. The mRNA levels of fragment 1 and 2 in the proband of compound heterozygote of F13 gene with point mutation and deletion and the proband＇s brother were lower than those in the parents or control subjects, There was no obvious difference of the mRNA level of fragment 3 among the family members and the control subiects. Conclusion： The compound heterozygote of F13 gene with point mutation and deletion could result in the abnormal transcription of FXlllA fragments, which might cause the FXIII deficiency in the family.