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4号染色体近端长臂的间质性缺失与Gc系统内的父子不相容性相关:可能的基因剂量效应降低和部分花斑性状。

Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.

作者信息

Yamamoto Y, Nishimoto H, Ikemoto S

机构信息

Department of Pediatrics, Jichi Medical School, Tochigi, Japan.

出版信息

Am J Med Genet. 1989 Apr;32(4):520-3. doi: 10.1002/ajmg.1320320419.

Abstract

Gc-system typing by isoelectric focusing polyacrylamide gel electrophoresis and quantitative assays were carried out on a patient with a karyotype of 46,XY,del(4)(q12q21.1) and on his parents with normal chromosomes. Although a father-child incompatibility within the Gc-system suggested that its locus is on segment 4q12-13, the serum concentration of vitamin D binding protein in the patient and his father were only about half of that of his mother and control individuals. The possibility of interference of a silent allele in the child could not be excluded. Associated congenital partial leukodermia appeared to be an expression of a partial piebald trait.

摘要

通过等电聚焦聚丙烯酰胺凝胶电泳对一名核型为46,XY,del(4)(q12q21.1)的患者及其染色体正常的父母进行了Gc系统分型和定量分析。尽管Gc系统中父子不相容表明其基因座位于4q12 - 13区段,但患者及其父亲的维生素D结合蛋白血清浓度仅约为其母亲和对照个体的一半。不能排除孩子中沉默等位基因干扰的可能性。相关的先天性部分白斑病似乎是部分斑驳性状的一种表现。

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