| 摘要 |
A method of determining the existence of a pathological condition or disease predisposition in an individual or their offspring associated with a structural chromosomal abnormality in a human, comprising the steps of: i) Identifying a nucleic acid probe sequence by ascertaining the nucleotide-by-nucleotide sequence of a target nucleic acid sequence; ii) Comparing said ascertained sequences with the sequences of SEQ ID Nos 1-428 and 447-479 in said target nucleic acid sequence using a computer program; iii) Identifying a sequence that is free of SEQ ID Nos 1-428 and 447-479 from said comparison; iv) Developing said genomic nucleic acid probe from said identified sequence, said identified sequence further being complementary to a non-repetitive portion of the target which hybridizes to a least a part of said identified genomic nucleic acid sequence; v) Providing a pair of said genomic nucleic acid probes designed to respectively hybridize on opposite sides of said abnormality, said nucleic acid probe having at least 50 nucleotides, appearing up to three times in a haploid genome, being free of SEQ ID Nos 1-428 and 447-479, and having a known set of sequence coordinated that define the position of said probe in reference to its location on a chromosome without a structural abnormality; vi) Reacting said pair of probes with a chromosomal target sequence containing said abnormality, and causing the probes to hybridize to the target sequence without requiring prehybridizing or cohybridizing of said probes with unlabeled repetitive DNA sequences to provide hybridization specificity; and vii) Detecting said hybridized probes as a way of ascertaining the existence of said chromosome abnormality, wherein the existence of said chromosome abnormality is indicative of the existence of said pathological condition or disease predisposition in said individual or their offspring. (62) Divided Out of 522406 |
