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相似文献

1
May spina bifida result from an X-linked defect in a selective abortion mechanism?脊柱裂可能是由选择性流产机制中的X连锁缺陷引起的吗?
J Med Genet. 1979 Jun;16(3):210-4. doi: 10.1136/jmg.16.3.210.
2
Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred.简短通讯:可能的X连锁无脑畸形和脊柱裂——一个家系报告
Am J Med Genet. 1980;6(2):119-21. doi: 10.1002/ajmg.1320060205.
3
Fetal mortality in sibships of cases with neural tube defects.神经管缺陷病例同胞中的胎儿死亡率。
Clin Genet. 1986 May;29(5):409-12. doi: 10.1111/j.1399-0004.1986.tb00512.x.
4
Spina bifida and the sex ratio.脊柱裂与性别比例。
Br Med J. 1980 Apr 26;280(6222):1098.
5
Birth ranks of spontaneous abortions in sibships of children affected by anencephaly or spina bifida.无脑儿或脊柱裂患儿同胞关系中自然流产的出生顺序
Br Med J. 1978 Jan 14;1(6105):72-3. doi: 10.1136/bmj.1.6105.72.
6
A family showing apparent X linked inheritance of both anencephaly and spina bifida.一个显示无脑儿和脊柱裂均呈现明显X连锁遗传的家族。
J Med Genet. 1988 Apr;25(4):227-9. doi: 10.1136/jmg.25.4.227.
7
Fetal mortality in sibships of cases with neural tube defects.神经管缺陷病例同胞中的胎儿死亡率。
Clin Genet. 1984 Dec;26(6):563-8. doi: 10.1111/j.1399-0004.1984.tb01104.x.
8
[Incidence of spina bifida occulta in relatives of children with myelodysplasia. Indications for high-risk screening].[脊髓发育不良患儿亲属中隐性脊柱裂的发病率。高危筛查的指征]
Zentralbl Gynakol. 1985;107(13):821-6.
9
[Spina bifida occulta and other neural tube defects. Genetic study and management].[隐性脊柱裂及其他神经管缺陷。遗传学研究与管理]
Neurochirurgie. 1988;34 Suppl 1:87-90.
10
HLA gene and haplotype frequencies in spina bifida. Population and family studies.脊柱裂中的人类白细胞抗原(HLA)基因及单倍型频率。群体与家系研究。
Tissue Antigens. 1977 Nov;10(5):399-402. doi: 10.1111/j.1399-0039.1977.tb00776.x.

引用本文的文献

1
Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation.女性易患颅神经管缺陷并非是因为在神经胚形成过程中胚胎生长或发育速度存在性别差异。
J Med Genet. 1994 May;31(5):383-7. doi: 10.1136/jmg.31.5.383.
2
Spina bifida and the sex ratio.脊柱裂与性别比例。
Br Med J. 1980 Apr 26;280(6222):1098.

本文引用的文献

1
A three year's study of anencephaly in Dublin: a report on 181 cases.
Ir J Med Sci. 1958 Sep;393:391-413.
2
The variation of endometrial acid phosphatase activity with the menstrual cycle.
J Obstet Gynaecol Br Commonw. 1965 Oct;72(5):769-74. doi: 10.1111/j.1471-0528.1965.tb00097.x.
3
Greater sensitivity of female than male rat embryos to acetazolamide teratogenicity.
Teratology. 1972 Oct;6(2):239-40. doi: 10.1002/tera.1420060217.
4
Prostaglandin production contributes to the contractions of the rat isolated uterus.前列腺素的产生有助于大鼠离体子宫的收缩。
Br J Pharmacol. 1972 May;45(1):146P.
5
Anencephaly and spina bifida: an etiologic hypothesis.
Birth Defects Orig Artic Ser. 1971 Feb;7(1):97-102.
6
Possible role for prostaglandin F 2 in parturition in sheep.前列腺素F2在绵羊分娩中的可能作用。
Nature. 1971 Aug 27;232(5313):629-31. doi: 10.1038/232629a0.
7
Anencephalus: a changing sex ratio.无脑儿:不断变化的性别比例。
Br J Prev Soc Med. 1973 May;27(2):81-4. doi: 10.1136/jech.27.2.81.
8
Causation of neural tube defects: clues from epidemiology.神经管缺陷的病因:来自流行病学的线索
Br Med Bull. 1974 May;30(2):158-63. doi: 10.1093/oxfordjournals.bmb.a071187.
9
Clues to the aetiology of neural tube malformations.神经管畸形的病因线索。
Dev Med Child Neurol. 1974 Dec;16(6 Suppl 32):3-15. doi: 10.1111/j.1469-8749.1974.tb03442.x.
10
Twins and neural tube defects.双胞胎与神经管缺陷。
Br J Prev Soc Med. 1974 May;28(2):73-80. doi: 10.1136/jech.28.2.73.

脊柱裂可能是由选择性流产机制中的X连锁缺陷引起的吗?

May spina bifida result from an X-linked defect in a selective abortion mechanism?

作者信息

Burn J, Gibbens D

出版信息

J Med Genet. 1979 Jun;16(3):210-4. doi: 10.1136/jmg.16.3.210.

DOI:10.1136/jmg.16.3.210
PMID:381663
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012693/
Abstract

It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.

摘要

有人认为,决定神经管缺陷患儿出生的主要遗传因素可能是一个单一的X连锁基因。它作为X连锁显性基因,并非通过产生神经管缺陷起作用,而是使受影响的胎儿能够在选择性自然流产中存活下来。这种在蜕膜-胎盘交界处介导的机制可能受母体和胎儿基因的共同控制。突变等位基因越多,存活的可能性就越大,在纯合患病母亲的纯合患病女性胎儿中达到最大值。无脑儿中女性比例高于脊柱裂,因为前者产前病情更严重,因此存活需要相对更多的突变等位基因。