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威尔逊氏病(肝豆状核变性)纯合子与杂合子的皮纹学(作者译)

[Dermatoglyphics of homo- and heterozygotes for Wilson's disease (hepatolenticular degeneration) (author's transl)].

作者信息

Vormittag W, Weninger M, Willvonseder R, Wewalka F

出版信息

Hum Genet. 1976 Feb 29;31(2):211-8. doi: 10.1007/BF00296148.

DOI:10.1007/BF00296148
PMID:1248830
Abstract

Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson patients showed 52.7% whorls, their heterozygous relatives about 40%; compared with our controls (males 33.16%, females 28.82%, Aue-Hauser, 1970) that means a strong increase of this pattern type. On the palm the high frequency of hypothenar patterns in homo- and heterozygotes for Wilson's disease and of loops with accessory triradius in the 4th interdigitum of the patients with Wilson's disease was striking.

摘要

对11例威尔逊氏病患者及其16名临床上无症状的一级亲属的皮纹进行了研究;根据铜-67的周转率,其中11名亲属为杂合子,在常染色体隐性遗传的假设下有12名。在指尖上,威尔逊氏病患者有52.7%为涡纹,其杂合子亲属约为40%;与我们的对照组(男性33.16%,女性28.82%,奥伊-豪泽,1970年)相比,这意味着这种纹型的频率大幅增加。在手掌上,威尔逊氏病纯合子和杂合子小鱼际纹型的高频率以及威尔逊氏病患者第4指蹼间有副三叉点的箕纹的高频率引人注目。

相似文献

1
[Dermatoglyphics of homo- and heterozygotes for Wilson's disease (hepatolenticular degeneration) (author's transl)].威尔逊氏病(肝豆状核变性)纯合子与杂合子的皮纹学(作者译)
Hum Genet. 1976 Feb 29;31(2):211-8. doi: 10.1007/BF00296148.
2
[Dermatoglyphics and skin folds in Wilson's disease].[威尔逊氏病中的皮纹学与皮肤褶皱]
Anthropol Anz. 1981 Dec;39(4):305-12.
3
[Wilson's disease. Summary of studies carried out in a family group with Wilson's disease. Significance of amino-acid balance in homo and heterozygotes for the detection of liver damage].[威尔逊氏病。在一个威尔逊氏病家族群体中开展的研究总结。同型和异型合子中氨基酸平衡对于检测肝损伤的意义]
Minerva Pediatr. 1976 Nov 3;28(34):2063-86.
4
Palmar dermatoglyphs in Wilson's disease.威尔逊氏病中的掌部皮纹
Br Med J. 1972 Sep 30;3(5830):825-6. doi: 10.1136/bmj.3.5830.825-e.
5
[Relationship between dermatoglyphics and Wilson's disease].[皮纹学与威尔逊氏病的关系]
Humangenetik. 1973;18(4):337-40. doi: 10.1007/BF00291131.
6
[Homo- and heterozygotic differentiation in Wilson's disease].[威尔逊病中的纯合子与杂合子分化]
Verh Dtsch Ges Inn Med. 1975;81:1336-9.
7
Absorption of copper in homozygotes and heterozygotes for Wilson's disease and controls: isotope tracer studies with 67 Cu and 64 Cu.威尔逊病纯合子和杂合子以及对照者对铜的吸收:用⁶⁷Cu和⁶⁴Cu进行的同位素示踪研究。
Clin Sci. 1972 Nov;43(5):617-25. doi: 10.1042/cs0430617.
8
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.109例匈牙利威尔逊病患者中ATP7B基因的新突变
Eur J Gastroenterol Hepatol. 2007 Feb;19(2):105-11. doi: 10.1097/01.meg.0000223904.70492.0b.
9
Dermatoglyphic analysis as a diagnostic tool in Wilson disease?皮纹分析能否作为肝豆状核变性的诊断工具?
Humangenetik. 1975 Aug 25;28(4):281-4. doi: 10.1007/BF00284798.
10
[Wilson' disease: rapid diagnosis and differentiation of heterozygous and homozygous carriers with 64CuCl2 (author's transl)].[威尔逊氏病:利用64CuCl2对杂合子和纯合子携带者进行快速诊断与鉴别(作者译)]
Dtsch Med Wochenschr. 1980 Apr 4;105(14):483-8. doi: 10.1055/s-2008-1070692.

本文引用的文献

1
Relationship between fingerprint patterns and Wilson's disease.指纹图案与威尔逊氏病之间的关系。
J Lab Clin Med. 1962 Oct;60:629-40.
2
A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).对三十个患有威尔逊氏病(肝豆状核变性)家庭的遗传学分析。
Ann Hum Genet. 1960 Apr;24:33-43. doi: 10.1111/j.1469-1809.1959.tb01713.x.
3
A genetic study of Wilson's disease: evidence for heterogeneity.威尔逊氏病的遗传学研究:异质性证据
Am J Hum Genet. 1972 Nov;24(6 Pt 1):646-66.
4
Long-term body retention of radiocopper (67Cu) and the diagnosis of Wilson's disease.放射性铜(67Cu)在体内的长期潴留与威尔逊病的诊断
Mayo Clin Proc. 1974 Jun;49(6):387-93.
5
A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism.
Neurology. 1973 Oct;23(10):1039-49. doi: 10.1212/wnl.23.10.1039.
6
[Relationship between dermatoglyphics and Wilson's disease].[皮纹学与威尔逊氏病的关系]
Humangenetik. 1973;18(4):337-40. doi: 10.1007/BF00291131.