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确定多基因座酶系统中一种由遗传决定的电泳变异体的起源位点;人类乳酸脱氢酶系统的加尔各答-1是一种B基因座变异体。

Defining the locus of origin of a genetically determined electrophoretic variant of a multilocus enzyme system; the Calcutta-1 of human LDH system is a B-locus variant.

作者信息

Herbschleb-Voogt E, Meera Khan P

出版信息

Hum Genet. 1981;57(3):290-5. doi: 10.1007/BF00278947.

Abstract

Six (four Hindus, one Sikh, and one Muslim) outr of 213 individuals originating from different parts of the Indian subcontinent (namely, Andhra Pradesh, Maharashtra, Uttar Pradesh, East Punjab, and West Punjab) were found to be Calcutta-1 (CAL1) variants of lactate dehydrogenase (LDH). The CAL1 variant was originally described (and thus, generally believed at present) as an allelic variant at the LDHA locus in chromosome 11. By using an improved Cellogel electrophoretic procedure the isozyme patterns observed in the erythrocytes and leukocytes of the variant have indicated that the CAL1 is not variant of LDHA but that of LDHB, a chromosome 12 marker. The suggestion was supported by the isozyme patterns of LDH in a set of segregating clones of man-mouse somatic cell hybrids with the variant as human partner. Moreover, the variant cosegregated consistently with the human chromosome 12 and with the markers firmly assigned to the latter but not with human chromosome 11 or its markers in these hybrids. These results confirmed that the CAL1 is an LDHB variant.

摘要

在来自印度次大陆不同地区(即安得拉邦、马哈拉施特拉邦、北方邦、东旁遮普邦和西旁遮普邦)的213人中,发现6人(4名印度教徒、1名锡克教徒和1名穆斯林)是乳酸脱氢酶(LDH)的加尔各答-1(CAL1)变体。CAL1变体最初被描述为(因此目前普遍认为)11号染色体上LDHA位点的等位基因变体。通过使用改进的Cellogel电泳程序,在该变体的红细胞和白细胞中观察到的同工酶模式表明,CAL1不是LDHA的变体,而是12号染色体标记LDHB的变体。这一推测得到了一组以该变体为人源亲本的人-鼠体细胞杂种分离克隆中LDH同工酶模式的支持。此外,在这些杂种中,该变体始终与人类12号染色体以及牢固定位在后者上的标记共分离,但不与人类11号染色体或其标记共分离。这些结果证实CAL1是一种LDHB变体。

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