Multipled PCR detection for deletion type alpha globin gene

Abstract

A multiple PCR detection method for the depletion-type human alpha-globin gene features that 4 pairs of 7 primers P1, P2, P3, p4, P5, P6 and P7 are used to form quadriplex PCR reaction. The design scheme of said primers and the explanation of result are also disclosed. It can be used for screening and diagnosing three types of alpha-Mediterranean anemia.

Description

technical field

[0001] The invention relates to a multiple PCR detection method for medical detection of human α-globin gene. Background technique

[0002] The α-globin gene is located in the α-globin gene cluster at the end of the short arm of chromosome 16. The gene cluster includes two repeated α genes (α2 and α1), an embryonic α gene (ξ2), three pseudogenes (ψξ1, ψα2, ψα1) and a gene of unknown function (θ1). It is: 5'-ξ2-ψξ1-ψα2-ψα1-α2-α1-θ1-3', the full length is 50kb (Buckle VJ, 1988; Lauer J, 1980; Michelson AM, 1983; Hatton CS, 1990). Among them, the ξ gene encodes the ξ globin chain, which is expressed in the early fetus. From late fetal period to after birth, ξ is gradually replaced by α2, α1.

[0003] The α2 and α1 genes are contained in two highly homologous repeat units consisting of three homologous segments (X, Y, and Z boxes) separated by three non-homologous regions (I, II, and III). Separation (Fig. 2A) (Higgs DR, 1989). During meiosis, the mismatch a...

Images