[Advancement in the methods for gene dosage analysis].
Gene dosage determination is increasingly important for the study of both genome variation and rearrangement associated with complex diseases. Large genomic duplications and deletions are increasingly found as the causes. Methods such as PCR or sequencing are usually qualitative rather than quantitative. Thus, these methods can not detect large genomic duplications or deletions. Therefore, searching for a gene dosage method which is reliable, sensitive and high-throughput becomes imperative. Many high-performance technologies have been developed for gene dosage analyses in the recent years. There are generally three categories of methods including cytogenetic, Southern or dot blotting, or PCR amplification. Recent development in these techniques have been introduced and discussed in this review, which will help people to choose a suitable method for different research.
Ma
Hui-li
HL
Department of Neurobiology, Beijing Geriatric Clinical and Research Center, Xuanwu Hospital of Capital University of Medical Sciences, Beijing, PR China.
Chen
Biao
B
D015139:Blotting, Southern / Q000379:methods; D020732:Cytogenetic Analysis / Q000379:methods; D017353:Gene Deletion; D018628:Gene Dosage / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods