Structural variation in the human genome Lars Feuk, Andrew R. Carson and Stephen W. Scherer Nat. Rev. Gen. Feb 2006 Tarmo Puurand, 13.02.06.

Structural variation in the human genome

Lars Feuk, Andrew R. Carson and Stephen W. Scherer Nat. Rev. Gen.

Feb 2006

Tarmo Puurand, 13.02.06

Cytogenetic detection and confirmation of structural variants.

Methods for detecting structural variants in the human genome.

Array-based, genome-wide methods for the identification of copy-number variants.

Multiplex PCR-based methods for the identification of copy-number variants.

The complexity of segmental duplications and copy-number variants.

Influence of structural variants on phenotype.

Inversions.

Disease Inversion Lenght Frequency

Haemophilia A Factor VIII gene

400 kb

Hunter syndrome IDS gene

Williams-Beuren syndrome

7q11.23 1,5 Mb 1/3 parents carry, 5% population

Angelman syndrome

15q12 4 Mb ½ parents carry, 9% population

Sotos syndrome 5q35 1,9 Mb In Japan, most fathers on these patients carry

The MHC Haplotype Project.

Sequence Variations between QBL and PGF.

Positional Distributions of Variations between COX and QBL in the HLA-DR Region.

Materials and methods.