Chromosome abnormalities have been common causes for human embryonic failure, fetus anomalies, developmental delay, mental retardation, behavior disorders, cancer initiation and progression. My lab has provided clinical diagnosis and genetic screening for patients suspected with chromosomal abnormalities and genomic defects. Molecular methods such as BAC-clone fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, SNP genotyping, and sequencing analysis of gene mutations have been used to delineate recognized chromosomal abnormalities. We have validated high through-put genome-wide oligonucleotide microarray analysis for clinical diagnosis of submicroscopic deletions/duplications and for mapping rearrangement breakpoints. We are initiating functional analysis using biochemical and genetic approaches on model animals. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, to dissect underlying molecular mechanisms, and to develop diagnostic and therapeutic approaches for patients with chromosomal and genomic aberrations.
- Xiang B, Li A, Valentin D, Novak N, Zhao HY, Li P. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet 2008;146A:1
- Brownstein CA, Adler F, Nelson-Williams C, Lijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter, Lifton RP. A translocation causing increased a-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA 200
- Li, P., et al. (2006). Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am. J. Med. Genet. 140A:2721-2729.
- Zhang, H., et al. (2004). FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am. J. Med. Genet. 124A:280-287.
- Li P, Wood T, Thompson JN, Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene, Genetics in Medicine : Official Journal of the American College of Medical Genetics., 4(6):420-6, 200
- Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM, Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation, Human Molecular