Germline copy number polymorphisms involving larger than 100 kb are uncommon in normal subjects.
BACKGROUND
Recent studies using ROMA and Array-CGH suggest that germline copy number polymorphisms (CNPs) involving >100 kb are common in humans.


METHODS
In this study, we used the Affymetrix GeneChip 100K single nucleotide polymorphisms (SNP) mapping panel to further examine the type and frequency of germline CNPs in the genome. By utilizing the allele intensity data generated while genotyping approximately 116,000 SNPs among 23 subjects from 4 families, we were able to detect multiple CNPs.


RESULTS
However, in contrast to several previous studies, we found that CNPs >100 kb are rare in the genome but CNPs involving 100s-1,000s of base pairs are more common.


CONCLUSIONS
We have demonstrated the utility of this approach, which has an important advantage over other methods because it is able to simultaneously assess both CNPs and SNPs, and therefore has great potential in genetic association studies of common diseases.
Liu
Wennuan
W
Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA
Chang
Baoli
B
Li
Tao
T
Dimitrov
Latchezar
L
Kim
Seungchan
S
Kim
Jin Woo
JW
Turner
Aubrey R
AR
Meyers
Deborah A
DA
Trent
Jeffery M
JM
Zheng
Siqun Lilly
SL
Isaacs
William B
WB
Xu
Jianfeng
J
D000483:Alleles; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011471:Prostatic Neoplasms / Q000235:genetics*
D004273:DNA, Neoplasm