Jin Z, Ji Z, Hu J
Department of Cardiovascular Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China.
Zhonghua Yi Xue Za Zhi. 2001 Nov 10;81(21):1284-6.
To investigate the relationship between mannose-binding lectin (MBL) gene exon 1 site mutations and chronic rheumatic heart disease (CRHD).
Polymerase chain reaction (PCR) and restrictive fragment length Polymorphism (RFLP) were used to investigate the MBL exon 1 alleles in 36 patients with CRHD and 39 normal people.
No C and D alleles of MBL gene were found in both groups. Eleven patients had A/B alleles, 1 patient had B/B alleles, 15 normal people had A/B alleles but none of the 39 normal people had B/B alleles. Statistic analyses showed no significant difference between CRHD group and normal group. But when the age of heart-disease-symptom-onset (HDSO) of the CRHD group were considered, we found that the mean HDSO age of patients with B allele was 30 +/- 14 years and the mean HDSO age of patients with AA homozygous was 37 +/- 11 years. P < 0.05.
MBL gene mutations may not be a main factor of the pathogenesis of CRHD, but MBL deficiency may facilitate the development of CRHD in younger people and accelerate the progress of CRHD. This is consistent with the phenomenon that the most susceptible people of rheumatic heart disease are teenagers.
探讨甘露糖结合凝集素（MBL）基因外显子1位点突变与慢性风湿性心脏病（CRHD）的关系。
采用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）技术，对36例CRHD患者和39例正常人的MBL外显子1等位基因进行检测。
两组均未发现MBL基因的C和D等位基因。11例患者有A/B等位基因，1例患者有B/B等位基因，15例正常人有A/B等位基因，但39例正常人中无B/B等位基因。统计学分析显示CRHD组与正常组之间无显著差异。但当考虑CRHD组的心脏病症状发作年龄（HDSO）时，我们发现携带B等位基因患者的平均HDSO年龄为30±14岁，AA纯合子患者的平均HDSO年龄为37±11岁。P<0.05。
MBL基因突变可能不是CRHD发病机制的主要因素，但MBL缺乏可能促进年轻人CRHD的发生，并加速CRHD的进展。这与风湿性心脏病最易感人群为青少年的现象一致。
