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目的确定家族性复发性葡萄胎(familial recurrent hydatidiform mole ,FRHM)的染色体亲源性,并进行基因定位。方法对葡萄胎组织进行病理分析,并通过激光捕获显微切割(laser capture microdissec-tion,LCM)技术从蜡块组织切片中纯化葡萄胎组织,应用聚合酶链反应扩增微卫星标记,确定FRHM的染色体亲源性;用19q13 .4区域的25个微卫星标记进行单倍型检测,确定这两个家系中致病基因是否为已报道的基因座。结果两个FRHM均为双亲来源的完全性葡萄胎(biparental complete hydatidiform mole ,BiCHM) ,两个家系中的患者在19q13 .4区域中的大多数遗传标记位点上表现为杂合。结论 FRHM常常与BiCHM相关,这两例家系的致病基因不在19q13 .4区域,FRHM存在遗传异质性。
Objective To determine the chromosomal parentality of familial recurrent hydatidiform mole (FRHM) and to locate the gene. Methods The hydatidiform mole was analyzed by pathology, and the hydatidiform mole was purified from the tissue sections of paraffin blocks by laser capture microdissection (LCM). The microsatellite markers were amplified by polymerase chain reaction (PCR) to determine the FRHM . The haplotypes were detected by 25 microsatellite markers in the 19q13.4 region to determine whether the causative genes in these two families were reported as loci. Results Both FRHMs were biparental complete hydatidiform mole (BiCHM), and patients in both families showed heterozygosity at most of the genetic marker sites in the 19q13.4 region. Conclusions FRHM is often associated with BiCHM. The genes of these two families are not in the 19q13.4 region, and there is genetic heterogeneity in FRHM.