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   Novel cleft susceptibility genes in chromosome 6q  
   
نویسنده letra a. ,menezes r. ,fonseca r.f. ,govil m. ,mchenry t. ,murphy m.j. ,hennebold j.d. ,granjeiro j.m. ,castilla e.e. ,orioli i.m. ,martin r. ,marazita m.l. ,bjork b.c. ,vieira a.r.
منبع journal of dental research - 2010 - دوره : 89 - شماره : 9 - صفحه:927 -932
چکیده    Cleft lip/palate is a defect of craniofacial development. in previous reports,chromosome 6q has been suggested as a candidate region for cleft lip/palate. a multipoint posterior probability of linkage analysis of multiplex families from the philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on bands 6q14.2-14.3. we genotyped 2732 individuals from families and unrelated individuals with and without clefts to investigate the existence of possible cleft-susceptibility genes in this region. we found association of prss35 and snap91 genes with cleft lip/palate in the case-control cohort and in caucasian families. haplotype analyses support the individual associations with prss35. we found prss35 expression in the head and palate of mouse embryos at critical stages for palatogenesis,whereas snap91 was expressed in the adult brain. we provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest prss35 as a novel candidate gene. © international & american associations for dental research.
کلیدواژه chromosome 6q; cleft lip/palate; fine mapping; polymorphism
آدرس department of oral biology,center for craniofacial and dental genetics,3501 terrace street,pittsburgh,pa 15261, United States, department of oral biology,center for craniofacial and dental genetics,3501 terrace street,pittsburgh,pa 15261, United States, eclamc at department of genetics,center of health sciences,federal university of rio de janeiro, Brazil, department of oral biology,center for craniofacial and dental genetics,3501 terrace street,pittsburgh,pa 15261, United States, department of oral biology,center for craniofacial and dental genetics,3501 terrace street,pittsburgh,pa 15261, United States, division of reproductive sciences,oregon national primate research center,oregon health and science university,portland,or, United States, division of reproductive sciences,oregon national primate research center,oregon health and science university,portland,or, United States, department of cell and molecular biology,institute of biology,federal fluminense university, Brazil, eclamc,inagemp,instituto oswaldo cruz,rio de janeiro,brazil,cemic,buenos aires, Argentina, eclamc at department of genetics,center of health sciences,federal university of rio de janeiro, Brazil, department of pediatrics,saint louis university,st. louis,mo, United States, department of oral biology,center for craniofacial and dental genetics,3501 terrace street,pittsburgh,pa 15261,united states,department of human genetics,graduate school of public health,3501 terrace street,pittsburgh,pa 15261,united states,department of psychiatry,school of medicine,university of pittsburgh,3501 terrace street,pittsburgh,pa 15261, United States, genetics division,brigham and womens hospital,harvard medical school,boston,ma, United States, department of oral biology,center for craniofacial and dental genetics,3501 terrace street,pittsburgh,pa 15261,united states,department of pediatric dentistry,school of dental medicine,3501 terrace street,pittsburgh,pa 15261,united states,department of human genetics,graduate school of public health,3501 terrace street,pittsburgh,pa 15261, United States
 
     
   
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