EVIDENCE FOR A HUMAN MITOTIC MUTANT WITH PLEIOTROPIC EFFECT
EVIDENCE FOR A HUMAN MITOTIC MUTANT WITH PLEIOTROPIC EFFECT
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DOI：
10.1111/j.1469-1809.1989.tb01791.x
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发表时间：
1989-07-01
影响因子：
1.9
通讯作者：
ZUFFARDI, O
中科院分区：
文献类型：
--
作者：
PAPI, L;MONTALI, E;ZUFFARDI, O
第三代堂兄弟父母所生的男性和女性同胞表现为智力迟钝、小头畸形、身材矮小、幼年型肢带型肌营养不良症和淋巴细胞和成纤维细胞中的多染色体嵌合体。在15-20%的细胞中发现了不同的非整倍体（主要是三体），淋巴细胞和成纤维细胞分别以8号和7号染色体的三体为主，而单体很少。由于非整倍体引起的细胞死亡增加可以解释诸如智力和生长迟缓以及小头畸形等症状。这可能是一个常染色体隐性有丝分裂突变的例子，可能影响同时参与纺锤体和肌肉功能的蛋白质。
Male and female sibs born to third‐cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb‐girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15–20% of the cells and trisomies for the chromosome 8 and chromosome 7 predominated in lymphocytes and fibroblasts respectively, while monosomies were rare. Increased cellular death due to aneuploidy could explain symptoms such as mental and growth retardation and microcephaly. This could be an instance of an autosomal recessive mitotic mutant, possibly affecting a protein simultaneously involved in spindle apparatus and muscle function.