Osteogenesis imperfecta hom XIX tau txais txiaj ntsig hauv X-txuas rov ua qauv. Ib qho xwm txheej raug suav hais tias yog X-txuas yog tias cov noob hloov pauv uas ua rau muaj qhov tsis sib xws nyob ntawm X chromosome, ib qho ntawm ob qho kev sib deev chromosomes hauv txhua lub cell.
Tus noob twg cuam tshuam los ntawm osteogenesis imperfecta?
Osteogenesis Imperfecta hom I mus txog IV yog tshwm sim los ntawm kev hloov hauv cov COL1A1 lossis COL1A2 noob. Cov noob no muaj cov lus qhia rau kev tsim cov collagen hom 1. Collagen yog cov protein tseem ceeb ntawm cov pob txha thiab cov ntaub so ntswg sib txuas nrog rau ntawm daim tawv nqaij, tendons thiab sclera.
Ntawm dab tsi chromosome yog kab mob pob txha nkig?
X-txuas kab mob pob txha pob txha pom los ntawm NICHD, thoob ntiaj teb, cov kws tshawb fawb. Cov kws tshawb fawb NICHD, nrog rau cov npoj yaig los ntawm Thaib teb thiab Switzerland, tau tshawb pom ib daim ntawv ntawm osteogenesis imperfecta, lossis kab mob pob txha nkig, uas tshwm sim los ntawm cov noob tsis xws luag ntawm the X chromosome
Puas yog kab mob pob txha nkig yog ib hom noob lossis chromosome hloov?
Feem ntau cov kab mob ntawm cov pob txha nkig tshwm sim los ntawm hloov pauv hauv cov noob rau cov pob txha ntau tshaj plaws, hu ua hom I collagen. Cov kev hloov pauv no yog tus kheej thiab tseem ceeb, tsis yog los ntawm niam txiv.
Puas yog hom 2 OI dominant lossis recessive?
OI hom IIA yog tshwm sim los ntawm kev hloov pauv ntawm COL1A1 thiab COL1A2 noob (17q21. 31-q22 thiab 7q22. 1 raws li) thiab kev sib kis yog autosomal dominant. Hom IIB tuaj yeem ua autosomal dominant thiab kuj tshwm sim los ntawm kev hloov pauv ntawm COL1A1 thiab COL1A2 noob (17q21.
