Methods for determination of haplotype dissection

摘要

A method for molecular haplotyping of a subject is disclosed. The method comprises: randomly selecting a set of chromosomes in each of a plurality of lyzed diploid cells of the subject, collecting the selected chromosomes from said plurality of cells into a plurality of sample tubes, wherein each sample tube contains chromosomes selected from one or more cells, genotyping genomic DNA in each sample tube, and determining haplotype of the alleles based on allele nucleotide sequence information and corresponding nucleotide signal intensities from genotyping data. Other methods for molecular haplotyping using single cell lysate or single cell microdissection are also disclosed.

主权项

1. A method for high-throughput whole genome haplotyping of a subject, comprising:
(a) isolating a subset of chromosomes from a lysed cell of the subject; (b) isolating chromosomal DNA from said subset of chromosomes; (c) generating an allelic genotype from nucleotide sequence information obtained from the chromosomal DNA to produce a first set of genotyping data; (d) isolating total genomic DNA of the subject; (e) generating an allelic genotype from nucleotide sequence information obtained from the total genomic DNA; (f) determining a haplotype of alleles based on a comparison of the allelic genotypes in steps (c) and (e); and (g) repeating steps (a) through (f) to determine the haplotypes of additional alleles.