DMD yog tshwm sim los ntawm kev hloov pauv ntawm DMD noob nyob ntawm caj npab luv (p) ntawm X chromosome (Xp21. 2). Chromosomes, uas muaj nyob rau hauv lub nucleus ntawm tib neeg lub hlwb, nqa cov ntaub ntawv caj ces rau txhua tus neeg.
DMD pom qhov twg?
DMD, tus neeg paub ntau tshaj plaws, muab cov lus qhia rau kev ua cov protein hu ua dystrophin. Cov protein no feem ntau nyob hauv cov leeg siv rau kev txav(cov leeg pob txha) thiab hauv plawv (lub plawv) cov leeg. Me me ntawm dystrophin muaj nyob rau hauv cov hlab ntsha hauv lub hlwb.
DMD feem ntau nyob qhov twg?
Duchenne leeg nqaij dystrophy (DMD) cuam tshuam rau cov leeg nqaij, ua rau cov nqaij ntshiv uas hnyav zuj zus ntxiv mus. DMD tshwm sim feem ntau hauv cov txiv neej, txawm tias qee zaus yuav cuam tshuam rau poj niam. Cov tsos mob ntawm DMD suav nrog kev qaug zog thiab poob (atrophy) ntawm ob leeg pob txha thiab lub plawv.
DMD noob loj npaum li cas?
Cov noob dystrophin yog cov noob neeg paub coob tshaj plaws, muaj 79 exons thiab spanning > 2, 200 kb, kwv yees li 0.1% ntawm tag nrho cov genome (96). Qhov feem ntau hloov pauv lub luag haujlwm rau DMD thiab BMD yog kev tshem tawm ib lossis ntau qhov exons.
DMD kuaj tau li cas?
Tus kws kho mob tus kws kho mob yuav coj koj tus menyuam cov ntshav thiab kuaj nws rau creatine kinase, ib qho enzyme uas koj cov leeg tso tawm thaum lawv puas lawm. Qib CK siab yog qhov qhia tias koj tus menyuam tuaj yeem muaj DMD. Gene xeem. Cov kws kho mob tseem tuaj yeem kuaj cov ntshav mus kuaj seb qhov hloov pauv ntawm cov noob dystrophin uas ua rau DMD.
