印度尼西亚-德国血统家族中的血红蛋白Lepore波士顿型与椭圆形红细胞增多症
Haemoglobin Lepore Boston and elliptocytosis in a family of Indonesian-German ancestry.
作者信息
Went L N, de Jong W W, Bos S E
出版信息
J Med Genet. 1975 Mar;12(1):83-8. doi: 10.1136/jmg.12.1.83.
A family is presented in which Hb Lepore Boston was found in six individuals over three generations. The gene must have had its origin either in Java (Indonesia) or in what is now the Federal Republic of Germany. The haemoglobin was characterized by amino-acid analysis of the six tryptic peptides that have a different composition in the beta- and the delta-chain. The ratio of glycine to alanine in position 136 of the fetal haemoglobin, which was somewhat raised in the Hb Lepore carriers, averaged 31:39. In addition an elliptocytosis gene was found, which was inherited independently from Hb Lepore; the simultaneous presence of elliptocytosis in three family members did not seem to aggravate the mild anaemia caused by Hb Lepore.
本文报道了一个家族，在三代人中的六个人身上发现了血红蛋白 Lepore Boston。该基因必定起源于爪哇（印度尼西亚）或现在的德意志联邦共和国。通过对六条胰蛋白酶肽段进行氨基酸分析来鉴定这种血红蛋白，这些肽段在β链和δ链中具有不同的组成。胎儿血红蛋白第136位的甘氨酸与丙氨酸之比在血红蛋白Lepore携带者中略有升高，平均为31:39。此外，还发现了一个椭圆形红细胞增多症基因，它与血红蛋白Lepore独立遗传；三名家族成员同时患有椭圆形红细胞增多症，似乎并未加重血红蛋白Lepore所致的轻度贫血。
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