伴有高血压的心肌肥厚家系的基因多态性分析

目的通过对1个伴有高血压的严重心肌肥厚家系进行候选基因测序筛查,探讨基因多态性与该家系心肌肥厚发病的遗传相关性。方法对该家系成员进行候选基因（ACE、NPPA、MT-PN、MYBPC3、MYH7）测序筛查;并通过病史采集、心脏彩超、心电图检查了解其临床特点。结果在家系先证者及其他罹患成员中发现与心肌肥厚表型相关的NPPA rs5063位点多态性,导致其编码产物中血管扩张素相关肽（cardiodilatin related peptide）段的第7位氨基酸由缬氨酸（V）转换为甲硫氨酸（M）;在先证者的MTPN基因中发现T/C碱基转换的单碱基多态性（SNP）位点为人群基因筛查中首次发现（dbSNP认证编号：SS#107794143）。结论NPPA基因rs5063多态性导致其编码产物血管扩张素相关肽的第7位V转换为M,有可能与该家系的心肌肥厚表型相关。

Genotyping of candidate genes in one pedigree of myocardiac hypertrophy accompanying with hypertension

Objective To investigate associations of single nucleotide polymorphism （SNP） in candidate genes with disease manifestation,by sequencing of 5 candidate genes in one pedigree manifested with myocardiac hypertrophy accompanying with hypertension. Methods In one pedigree,the sequencing of 5 candidate genes （Angiotensin Converting Enzyme （ACE）,Natriuretic peptide precursor A （NPPA）,Myosin,heavy polypeptide 7,cardiac muscle,beta （MYH7）,Myotrophin （MTPN）,Cardiac myosin-binding protein C3 （MYBPC3）） was performed, the clinical information of medical history was collected, and Doppler echocardiography and Electric Cardiography （ ECG ） were examined. Results The heterozygous genotype of, NPPA rs5063, which causes the code transformation of encoded NPPA pipetide at 7th amine acid from valine（V） to methionine（M） , were exclusively found in the proband and sicked members in the pedigree rather than unaffected members, One SNP site was firstly found in MTPN gene in the proband （ db- SNP build 130： SS#107794143）. Conclusions The result showed association of the heterozygous genotype of NPPA rs5063 with the clinical phenotype of disease manifestation of the investigated pedigree.