Evaluating genetic disorders
The present invention relates to genetic analysis and evaluation utilizing copy-number variants or polymorphisms. The methods utilize array comparative genomic hybridization and PCR assays to identify the significance of copy number variations in a human or non-human animal subject or subject group.
1. A method of hybridizing a nucleic acid probe comprising:
(a) hybridizing a nucleic acid probe to a polynucleic acid from a human subject with autism by nucleic acid hybridization or microarray analysis; and
(b) detecting a genetic variation by the nucleic acid hybridization or microarray analysis, wherein the genetic variation disrupts or modulates contactin 4 gene (CNTN4), and wherein the genetic variation is a microdeletion.
2. The method of claim 1 , wherein the microarray analysis is selected from the group consisting of a Comparative Genomic Hybridization (CGH) array analysis and an SNP array analysis.
3. The method of claim 1 , wherein detecting comprises FISH.
4. The method of claim 1 , wherein the microdeletion is at 3p26.
5. The method of claim 2 , wherein the microarray analysis comprises Comparative Genomic Hybridization (CGH) array analysis.
6. The method of claim 2 , wherein the microarray analysis comprises Single Nucleotide Polymorphism (SNP) array analysis.
7. A method of synthesizing a nucleic acid product comprising:
(a) synthesizing a nucleic acid product from a polynucleic acid from a human subject with autism by PCR or sequencing; and
(b) detecting a genetic variation by the PCR or sequencing, wherein said genetic variation disrupts or modulates contactin 4 gene (CNTN4), and wherein the genetic variation is a microdeletion.
8. The method of claim 7 , wherein the nucleic acid product synthesized from the polynucleic acid comprises cDNA.
9. The method of claim 7 , wherein the microdeletion is at 3p26.
10. The method of claim 7 , wherein the sequencing is a high throughput sequencing method.
11. The method of claim 7 , wherein the detecting comprises PCR.
12. The method of claim 11 , wherein the PCR comprises use of an oligonucleotide primer that is capable of hybridizing to SEQ ID NO: 1 or SEQ ID NO: 2.
13. A method comprising:
(a) synthesizing a nucleic acid product from a polynucleic acid from a human subject with autism by PCR or sequencing or hybridizing a nucleic acid probe to a polynucleic acid from a human subject with autism by nucleic acid hybridization or microarray analysis; and
(b) detecting a genetic variation by the PCR, sequencing, nucleic acid hybridization or microarray analysis, wherein said genetic variation disrupts or modulates contactin 4 gene (CNTN4), and wherein the genetic variation is a microdeletion at 3p26.