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III型成骨不全症:非洲的一种古老突变?

Osteogenesis imperfecta type III: an ancient mutation in Africa?

作者信息

Viljoen D, Beighton P

机构信息

Department of Human Genetics, Medical School, University of Cape Town, South Africa.

出版信息

Am J Med Genet. 1987 Aug;27(4):907-12. doi: 10.1002/ajmg.1320270417.

DOI:10.1002/ajmg.1320270417
PMID:3425600
Abstract

In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people, who comprise the major tribal groups in Zimbabwe, both had a similar and relatively high gene frequency for this disorder. Both tribes were derived from common progenitors, but until 150 years ago had been geographically separated for 2 millenia. Subsequently, they have remained culturally and socially distinct. The implications are that the mutation for OI III in Africa occurred at least 2,000 years ago.

摘要

在对津巴布韦残疾人机构的一项调查中,确认了58例成骨不全症(OI)患者;其中42例患罕见的III型OI。绍纳族和恩德贝莱族是津巴布韦的主要部落群体,这两个群体中该疾病的基因频率相似且相对较高。这两个部落都源自共同的祖先,但直到150年前,他们在地理上已经分隔了2000年。随后,他们在文化和社会方面一直保持着差异。这意味着非洲的III型OI突变至少发生在2000年前。

相似文献

1
Osteogenesis imperfecta type III: an ancient mutation in Africa?III型成骨不全症:非洲的一种古老突变?
Am J Med Genet. 1987 Aug;27(4):907-12. doi: 10.1002/ajmg.1320270417.
2
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.III型成骨不全症。参照基因异质性对表型进行描述。
Am J Med Genet. 1986 Mar;23(3):821-32. doi: 10.1002/ajmg.1320230309.
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Classification of Osteogenesis Imperfecta revisited.成骨不全的分类再探讨。
Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28.
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Images in clinical medicine. Adults with osteogenesis imperfecta.临床医学影像。成骨不全症成人患者。
N Engl J Med. 2006 Dec 28;355(26):e28. doi: 10.1056/NEJMicm062996.
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Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta.
Ann N Y Acad Sci. 1988;543:142-56. doi: 10.1111/j.1749-6632.1988.tb55327.x.
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Osteogenesis imperfecta types I-XI: implications for the neonatal nurse.Ⅰ至Ⅺ型成骨不全症:对新生儿护士的启示
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Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta.成骨不全症的牙科表现:I. I型牙本质发育不全的发生率及表现
J Craniofac Genet Dev Biol. 1987;7(2):115-25.
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Osteogenesis imperfecta type IIA: evidence for dominant inheritance.IIA型成骨不全症:显性遗传的证据。
J Med Genet. 1987 Jul;24(7):386-9. doi: 10.1136/jmg.24.7.386.
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On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa.关于南非黑人人口中III型成骨不全症相对患病率出奇高的情况。
Clin Genet. 1985 Apr;27(4):398-401. doi: 10.1111/j.1399-0004.1985.tb02282.x.
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The evolution of the nosology of osteogenesis imperfecta.成骨不全症分类学的演变。
Clin Genet. 2021 Jan;99(1):42-52. doi: 10.1111/cge.13846. Epub 2020 Nov 3.

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Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.南非XI型成骨不全症中的牙本质发育不全:基因型-表型相关性
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Craniofacial manifestations in osteogenesis imperfecta type III in South Africa.
南非III型成骨不全症的颅面表现
BDJ Open. 2017 Oct 20;3:17021. doi: 10.1038/bdjopen.2017.21. eCollection 2017.
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Osteogenesis imperfecta:epidemiology and pathophysiology.成骨不全症:流行病学与病理生理学
Curr Osteoporos Rep. 2007 Sep;5(3):91-7. doi: 10.1007/s11914-007-0023-z.
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A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.I型胶原蛋白α2(I)链中的单个氨基酸缺失会导致III型成骨不全症。
Hum Genet. 1993 Feb;90(6):621-8. doi: 10.1007/BF00202479.
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Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.III型成骨不全症:I型胶原蛋白结构基因COL1A1和COL1A2中的突变不一定是致病原因。
J Med Genet. 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492.
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Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.由于I型胶原蛋白COL1A1基因中CpG二核苷酸的复发性点突变导致的成骨不全。
Hum Genet. 1991 May;87(1):33-40. doi: 10.1007/BF01213088.