IDENTIFICATION OF HB HAMILTON OR BETA-11(A8)VAL-]ILE GENE BY THE POLYMERASE CHAIN-REACTION AMPLIFICATION TECHNIQUE

被引：5

作者：

MANCA, L

COCCO, E

COSSU, G

MASALA, B

机构：

[1] UNIV SASSARI,INST GEN PHYSIOL & BIOL CHEM,VIA MURONI 25,I-07100 SASSARI,ITALY

[2] UNITA SANITARIA LOCALE 5,OZIERI,ITALY

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1992年 / 1139卷 / 1-2期

关键词：

PCR; BETA-GLOBIN GENE; MUTATION; HEMOGLOBIN HAMILTON; CPG DINUCLEOTIDE;

D O I：

10.1016/0925-4439(92)90076-Y

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：

Amplification of the beta-globin gene by the PCR technique, followed by the enzymatic digestion of the DNA fragment obtained, was used to easily identify the human beta-globin variant Hb Hamilton which is characterized by the valine to isoleucine substitution at position 11. The result revealed the predicted G to A transition at codon 11 which abolishes a MaeIII restriction site. This mutation, which is rather common among Sardinians, is at the level of one of the five CpG dinucleotides of the beta-globin gene.

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页码：17 / 19

页数：3

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