Recombination hotspot in NF1 microdeletion patients
نویسندگان
چکیده
منابع مشابه
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
متن کاملRecombination Hotspot Activity in Drosophila Melanogaster
MELANOGASTER By MAHROSE MEHDI A thesis submitted to the Graduate School-New Brunswick Rutgers, The State University of New Jersey and The Graduate School of Biomedical Sciences University of Medicine and Dentistry of New Jersey in partial fulfillment of the requirements for the degree of Master of Science Graduate Program in Cell and Developmental Biology written under the direction of Dr. Kim ...
متن کاملA DNA Recombination “Hotspot” in Humans Is Missing in Chimps
It's no surprise that the Amazonian rainforest contains far more species than, say, the Siberian tundra. Over 50% of the world's species live in tropical rainforests, which cover just 6% to 7% of the earth's terrestrial surface. That the number of marine and terrestrial species declines with distance from the equator is a well-documented phenomenon called the latitudinal species diversity gradi...
متن کاملAbsence of the TAP2 Human Recombination Hotspot in Chimpanzees
Recent experiments using sperm typing have demonstrated that, in several regions of the human genome, recombination does not occur uniformly but instead is concentrated in "hotspots" of 1-2 kb. Moreover, the crossover asymmetry observed in a subset of these has led to the suggestion that hotspots may be short-lived on an evolutionary time scale. To test this possibility, we focused on a region ...
متن کاملA Recombination Hotspot in a Schizophrenia-Associated Region of GABRB2
BACKGROUND Schizophrenia is a major disorder with complex genetic mechanisms. Earlier, population genetic studies revealed the occurrence of strong positive selection in the GABRB2 gene encoding the beta(2) subunit of GABA(A) receptors, within a segment of 3,551 bp harboring twenty-nine single nucleotide polymorphisms (SNPs) and containing schizophrenia-associated SNPs and haplotypes. METHODO...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2001
ISSN: 1460-2083
DOI: 10.1093/hmg/10.13.1387