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萨斯喀彻温省的血红蛋白C性状

Hemoglobin C trait in Saskatchewan.

作者信息

Vella F

出版信息

Can Med Assoc J. 1966 Nov 26;95(22):1135-6.

PMID:5923474
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1935820/
Abstract

In the beta chain of normal adult hemoglobin, the amino acid residues in positions six and seven are glutamic acid. In hemoglobin C, lysine replaces the glutamic acid residue in position six. Two hemoglobin variants have been described in which lysine replaces the glutamic acid residue in position seven.During a search for abnormalities of hemoglobin synthesis detectable by conventional electrophoretic techniques, some 20,000 blood samples were screened from the population of Saskatchewan. Two specimens gave an electrophoretic pattern of hemoglobins A and C. The abnormal hemoglobin was purified and "finger printed" and found to be the same as classical hemoglobin C (i.e. alpha(2)beta(2) 6 glu --> lys). Both specimens had originated from healthy blood donors, one a Ghanaian student and the other a young white man of immigrant Irish-Scottish parents living near Saskatoon.

摘要

在正常成人血红蛋白的β链中,第六和第七位的氨基酸残基是谷氨酸。在血红蛋白C中,赖氨酸取代了第六位的谷氨酸残基。已经描述了两种血红蛋白变体,其中赖氨酸取代了第七位的谷氨酸残基。在通过传统电泳技术寻找可检测到的血红蛋白合成异常的过程中,从萨斯喀彻温省的人群中筛选了约20,000份血样。两份标本呈现出血红蛋白A和C的电泳图谱。异常血红蛋白被纯化并进行“指纹”分析,发现与经典血红蛋白C相同(即α(2)β(2) 6 glu→lys)。两份标本均来自健康献血者,一位是加纳学生,另一位是居住在萨斯卡通附近、父母为爱尔兰-苏格兰移民的年轻白人男子。

相似文献

1
Hemoglobin C trait in Saskatchewan.萨斯喀彻温省的血红蛋白C性状
Can Med Assoc J. 1966 Nov 26;95(22):1135-6.
2
[The primary structure of the hemoglobin from a white rhinoceros (Ceratotherium simum, perissodactyla): beta 2 Glu].[白犀牛(犀科,奇蹄目)血红蛋白的一级结构:β2 谷氨酸]
Hoppe Seylers Z Physiol Chem. 1982 Sep;363(9):1077-85.
3
Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].通过质谱鉴定β-珠蛋白链中存在两个顺式突变的新型人类血红蛋白变体的策略:Hb S-克利希[β6(A3)谷氨酸→缬氨酸;β8(A5)赖氨酸→苏氨酸]
Hemoglobin. 2009;33(3):177-87. doi: 10.1080/03630260903061184.
4
Hemoglobin Syracuse (alpha2beta2-143(H21)His leads to Pro), a new high-affinity variant detected by special electrophoretic methods. Observations on the auto-oxidation of normal and variant hemoglobins.血红蛋白锡拉丘兹(α2β2-143(H21)组氨酸突变为脯氨酸),一种通过特殊电泳方法检测到的新型高亲和力变体。关于正常和变体血红蛋白自动氧化的观察。
J Clin Invest. 1975 Mar;55(3):469-77. doi: 10.1172/JCI107953.
5
[Hemoglobinopathies in West-African immigrant workers in France (author's transl)].
Sem Hop. 1978;54(43-44):1343-6.
6
A new hemoglobin variant resembling hemoglobin E. Hemoglobin E Saskatoon: beta-22 Glu replaced by Lys.一种类似于血红蛋白E的新型血红蛋白变体。萨斯卡通血红蛋白E:β-22位谷氨酸被赖氨酸取代。
Can J Biochem. 1967 Sep;45(9):1385-91. doi: 10.1139/o67-163.
7
Hemoglobin Broussais: alpha-90 lys changed to asn.布鲁赛血红蛋白:α-90位赖氨酸突变为天冬酰胺。
Can J Biochem. 1970 Aug;48(8):908-10.
8
Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients.泰国患者中 Hb Korle-Bu(β(73);天冬酰胺-天冬氨酸)和 Hb E(β(26);谷氨酸-赖氨酸)的复合杂合性与 3.7 kb 缺失型α地中海贫血
Ann Hematol. 2002 Jul;81(7):389-93. doi: 10.1007/s00277-002-0485-0. Epub 2002 Jul 3.
9
[Primary structure of abnormal E-like hemoglobin].
Biokhimiia. 1979 May;44(5):816-21.
10
Hemoglobin G trait and S trait in the same patient.同一患者的血红蛋白G特性和S特性。
Am J Med Technol. 1983 Mar;49(3):165-7.

本文引用的文献

1
A new inherited abnormality of human hemoglobin.一种新的人类血红蛋白遗传性异常。
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2
A NEW HAEMOGLOBIN IN A THAI FAMILY. A CASE OF HAEMOGLOBIN SIRIRAJ-BETA THALASSAEMIA.一个泰国家庭中的一种新型血红蛋白。一例西里拉杰β地中海贫血血红蛋白病例。
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HEMOGLOBIN C DISEASE IN A SICILIAN-CANADIAN FAMILY.一个西西里裔加拿大家庭中的血红蛋白C病
Can Med Assoc J. 1963 Dec 14;89(24):1239-42.
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A new hemoglobin variant with sickling properties.一种具有镰变特性的新型血红蛋白变体。
N Engl J Med. 1963 Apr 18;268:862-6. doi: 10.1056/NEJM196304182681603.
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Hemoglobin C disease in an Anglo-Saxon family.一个盎格鲁-撒克逊家族中的血红蛋白C病
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[The first case of hemoglobin C-thalassemia described in Italy. Collective review on hemoglobin C].[意大利报道的首例血红蛋白C-地中海贫血病例。关于血红蛋白C的综述]
Haematologica. 1961;46:211-72.
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Haemoglobin Norfolk: a new haemoglobin found in an English family with observations on the naming of new haemoglobin variants.诺福克血红蛋白:在一个英国家庭中发现的一种新血红蛋白及关于新血红蛋白变体命名的观察
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[Association by electrophoresis of a thalassemic syndrome and an unidentified abnormal hemoglobin in a Frenchman from Picardy; examination by electron microscopy].[一名来自皮卡第的法国人的地中海贫血综合征与一种不明异常血红蛋白的电泳关联;电子显微镜检查]
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Malaria in carriers of the sickle-cell trait and in newborn children.镰状细胞性状携带者及新生儿中的疟疾
Exp Parasitol. 1957 Jul;6(4):418-47. doi: 10.1016/0014-4894(57)90032-2.
10
Homozygous haemoglobin-C disease in a white family with special reference to blood autolysis studies.一个白人家庭中的纯合子血红蛋白C病,特别提及血液自溶研究。
Br J Haematol. 1957 Jan;3(1):68-76. doi: 10.1111/j.1365-2141.1957.tb05772.x.