HAPLOTYPE OF MULTIPLE POLYMORPHISMS RESOLVED BY ENZYMATIC AMPLIFICATION OF SINGLE DNA-MOLECULES

被引:96
作者
RUANO, G [1 ]
KIDD, KK [1 ]
STEPHENS, JC [1 ]
机构
[1] YALE UNIV,HOWARD HUGHES MED INST,HUMAN GENE MAPPING LIB,NEW HAVEN,CT 06511
关键词
β-globin cluster; polymerase chain reaction; single-molecule dilution;
D O I
10.1073/pnas.87.16.6296
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
We have developed a reliable method for the direct resolution of haplotypes or linkage phase from individuals who are multiply heterozygous in a given genomic region. The method is based on single-molecule dilution (SMD) of genomic template and amplification via biphasic polymerase chain reaction (booster PCR). We have verified the feasibility of the SMD method for a highly polymorphic region within the β-globin cluster by analysis of triply heterozygous individuals of known haplotype. This approach should be useful in many studies in population or evolutionary genetics and in a variety of clinical settings.
引用
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页码:6296 / 6300
页数:5
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