NEW ABNORMAL HUMAN-HEMOGLOBIN - HB PRATO (ALPHA-231 (B-12) ARG-]SER BETA-2)

被引：20

作者：

MARINUCCI, M

MAVILIO, F

MASSA, A

GABBIANELLI, M

FONTANAROSA, PP

CAMAGNA, A

IGNESTI, C

TENTORI, L

机构：

[1] OSPED MISERICORDIA & DOLCE,PRATO,ITALY

[2] UNIV ROME,MED 2 CLIN,I-00100 ROME,ITALY

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1979年 / 578卷 / 02期

关键词：

(Structure; Function); Hemoglobin Prato;

D O I：

10.1016/0005-2795(79)90184-3

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Prato (Tuscany, Italy). Structural studies demonstrated a previously unreported amino acid substitution, α31 (B12) Arg → Ser (this is an α 1β1 contact). The new variant has been named Hb Prato. It was unstable in isopropanol and heat-denaturation tests, but has normal functional properties, with respect to whole blood studies. Family studies indicated that the variant had been inherited from the mother, a 39-year-old woman of Sicilian extraction. Hb Prato occurs at 20 and 28% in hemolysates from the boy and woman, respectively. © 1979.

引用

页码：534 / 540

页数：7

共 13 条

[1]

ABRAHAM E C, 1976, Hemoglobin, V1, P27, DOI 10.3109/03630267609031020

[2] ESTIMATION OF SMALL PERCENTAGES OF FOETAL HAEMOGLOBIN [J].