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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.

DOI:10.1002/ajmg.1320320419
PMID:2773996
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。

相似文献

1
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.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。
Am J Med Genet. 1989 Apr;32(4):520-3. doi: 10.1002/ajmg.1320320419.
2
Tentative assignment of piebald trait gene to chromosome band 4q12.斑驳性状基因初步定位于染色体4q12带。
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Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.4号染色体长臂远端间质缺失,del(4)(q33-q35),伴父源性平衡易位。
Singapore Med J. 2008 Nov;49(11):e336-9.
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[Terminal partial mosaic monosomy of the short arm of chromosome 3, in discordant monozygotic twins, 46,XY/46,XY, del (3) (p25)].
An Esp Pediatr. 1987 Mar;26(3):187-90.
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Another patient with a deletion 14q11.2q13.另一位患有14q11.2q13缺失的患者。
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Identification of group specific component/vitamin D-binding protein (GC/DBP) mutants by isoelectric focusing in immobilized pH gradients.通过在固定化pH梯度中进行等电聚焦鉴定群体特异性成分/维生素D结合蛋白(GC/DBP)突变体。
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Down syndrome--a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide-dismutase type 1 (SOD-1) gene.唐氏综合征——一种由21号染色体长臂一小段内基因三体性导致的基因剂量疾病,以对1型超氧化物歧化酶(SOD-1)基因效应的研究为例。
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Association of the macrophage activating factor (MAF) precursor activity with polymorphism in vitamin D-binding protein.巨噬细胞激活因子(MAF)前体活性与维生素D结合蛋白多态性的关联。
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Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15).
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引用本文的文献

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Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene.肾缺如的遗传病因:Renag1的精细定位及Kit作为候选功能基因的鉴定。
PLoS One. 2015 Feb 18;10(2):e0118147. doi: 10.1371/journal.pone.0118147. eCollection 2015.
2
Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.一名2岁女童因新发不平衡易位导致间质性缺失,del(4)(q12q21.1):进一步证明斑驳性状定位于4q12近端。
J Med Genet. 1997 Aug;34(8):692-5. doi: 10.1136/jmg.34.8.692.
3
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
孟德尔细胞遗传学。与孟德尔疾病相关的染色体重排。
J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713.
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Toward the complete genomic map and molecular pathology of human chromosome 4.迈向人类4号染色体的完整基因组图谱和分子病理学
Hum Genet. 1994 Jul;94(1):1-18. doi: 10.1007/BF02272834.
5
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.人类斑驳病中KIT(肥大/干细胞生长因子受体)原癌基因的突变。
Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8696-9. doi: 10.1073/pnas.88.19.8696.
6
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.KIT(肥大细胞/干细胞生长因子受体)原癌基因的突变导致人类斑驳病出现一系列连续的表型。
Am J Hum Genet. 1992 Nov;51(5):1058-65.
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Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.人类斑驳病中c-kit(肥大/干细胞生长因子受体)原癌基因的显性负性突变和功能丧失突变。
Am J Hum Genet. 1992 Feb;50(2):261-9.