Method and apparatus for chromosome profiling

A fluorescent in situ hybridization method comprising the steps of:

• obtaining a sample containing cells having at least one chromosome for profiling;
• obtaining a plurality of different species specific, chromosome specific, and location specific DNA probes, wherein said DNA probes contain different specific fluorescent labels and are capable of marking and generating differential major color bands on the at least one chromosome for profiling at substantially equidistant locations on the at least one chromosome for profiling;
• in situ hybridizing said sample with said DNA probes;
• and
• detecting the hybridization of said DNA probes to the at least one chromosome for profiling using said different specific fluorescent labels, and each band of said differential major color bands on the at least one chromosome for profiling are spaced at substantially the same distance.

A method of visually determining whether a Robertsonian translocation has occurred among acrocentric chromosomes in a human sample comprising the steps of:

• obtaining a human sample containing cells having acrocentfic chromosomes for profiling;
• obtaining a plurality of different chromosome specific and location specific human DNA probes, wherein said DNA probes contain different specific fluorescent labels and are capable of marking normal acrocentric chromosomes at substantially equidistant locations on each of said normal acrocentric chromosomes;
• hybridizing said sample with said DNA probes such that differential fluorescent major color bands are produced on each of said acrocentric chromosomes for profiling in said cells of said human sample;
• comparing said differential fluorescent major color bands on each of said acrocentric chromosomes for profiling in said cells of said human sample with differential fluorescent major color bands on the normal control acrocentric chromosomes by visual analysis and determining the whether a Robertsonian translocation has occurred among said acrocentric chromosomes for profiling in said cells of said human sample, wherein said differential fluorescent major color bands on said normal control acrocentric chromosomes are generated by hybridizing said normal control acrocentric chromosomes with said DNA probes and detecting the hybridization of said DNA probes to said normal acrocentric chromosomes using said specific fluorescent labels, and each band of said differential fluorescent major color bands on said each of normal control acrocentric chromosomes are spaced at substantially the same distance.

A method of verifying the presence of a marker chromosome in a sample comprising the steps of:

• obtaining a sample containing cells having a chromosomal material suspected of containing partial chromosomes for analysis;
• obtaining a plurality of different species specific, chromosome specific, and location specific DNA probes, wherein said DNA probes contain different specific fluorescent labels and are capable of marking normal control chromosomes of said partial chromosomes at substantially equidistant locations on each of said normal control chromosomes;
• hybridizing said sample with said DNA probes such that differential fluorescent major color bands are produced on said chromosomal material suspected of containing partial chromosomes;
• and
• comparing said differential fluorescent major color bands on said chromosomal material suspected of containing partial chromosomes with differential fluorescent major color bands on said normal control chromosomes by visual analysis and verifying whether said chromosomal material contains said partial chromosomes, wherein the presence of said partial chromosomes in said chromosomal material indicates the presence of said marker chromosome in the sample, said differential fluorescent major color bands on said normal control chromosomes are generated by hybridizing said normal control chromosomes with said DNA probes and detecting the hybridization of said DNA probes to said normal control chromosomes using said specific fluorescent labels, and each band of said differential fluorescent major color bands on each of said normal control chromosomes are spaced at substantially the same distance.