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目的探讨7号染色体臂间倒位的遗传效应。方法对2004-2012年来广东省妇幼保健院就诊的47 699例患者的外周血、脐血、羊水标本制备染色体,G显带核型分析。结果共发现10例7号染色体臂间倒位,发生率为0.2‰,其中6例行外周血染色体检查的患者均伴有不同程度的不良孕产史;2组羊水病例中,孕妇为7号臂间倒位患者,行羊水穿刺细胞培养染色体分析后,其胎儿7号染色体臂间倒位且位点与母方一致,证实遗传自母方。10例患者的臂间倒位断裂位点均位于染色体G显带的浅带,倒位片段长度在50~120 Mb之间,其中(p13q22)这一位点最为常见。结论 7号染色体臂间倒位存在一定的遗传效应,其表型可能与倒位断裂位点及倒位片段长度相关,由于标本量较少,还需进一步研究。
Objective To investigate the genetic effect of internodal inversion on chromosome 7. Methods The chromosomes and G - banding karyotypes of 47 699 patients from Guangdong Provincial Maternal and Child Health Hospital from 2004 to 2012 were collected for peripheral blood, cord blood and amniotic fluid samples. Results A total of 10 cases of chromosome 7 internuclear inversion were found, the incidence rate was 0.2 ‰. Among them, 6 cases of peripheral blood chromosomal examination were associated with varying degrees of adverse pregnancy history. Among the 2 cases of amniotic fluid, pregnant women were 7 Armpits in patients with reversal of amniocentesis, cell culture chromosome analysis, the fetus on chromosome 7 inversions and the site consistent with the mother, confirmed genetic maternal side. All the 10 cases were located in the shallow band of G-band, the length of the inverted fragment was between 50 and 120 Mb, of which the site of (p13q22) was the most common. Conclusion There is a certain genetic effect on inversions between chromosomes 7 on the chromosome 7, and its phenotype may be related to the length of the inverted sites and the inverted fragments. Due to the small sample size, further studies are needed.