Video: Vim li cas trinucleotide rov ua rau muaj kab mob?
2024 Tus sau: Stanley Ellington | [email protected]. Kawg hloov kho: 2023-12-16 00:17
Triplet Expansion Disorders
Cov trinucleotide rov ua dua kev tsis sib haum xeeb (tseem hu ua trinucleotide rov ua dua expansion disorders los yog triplet rov expansion disorders) yog ib txheej ntawm cov kab mob caj ces ua los ntawm kev nce hauv tus lej ntawm trinucleotide rov ua dua nyob rau hauv tej genes tshaj qhov qub, ruaj khov, pib.
Ntawm no, cov kab mob dab tsi tshwm sim los ntawm trinucleotide rov ua dua?
Yam tsawg kawg yog xya qhov teeb meem tshwm sim los ntawm trinucleotide rov nthuav dav: X-txuas qaum qaum thiab pob txha pob txha atrophy (SBMA), ob lub X mob tsis yooj yim ntawm kev puas hlwb (FRAXA thiab FRAXE), myotonic dystrophy , Huntington's disease, spinocerebellar ataxia type 1 (SCA1), thiab dentatorubral-pallidoluysian atrophy (DRPLA).
Kuj Paub, ua li cas trinucleotide rov tshwm sim? Kev hloov pauv, xa mus rau raws li " trinucleotide rov ua dua (TNR) expansion,” tshwm sim thaum tus naj npawb ntawm triplets tam sim no nyob rau hauv ib tug mutated gene yog ntau dua li cov muaj nyob rau hauv ib txwm gene [1–3]. Tsis tas li ntawd, tus naj npawb ntawm triplets hauv cov kab mob gene txuas ntxiv mus rau nce raws li tus kab mob gene yog inherited (Fig.
Tsis tas li ntawd, dab tsi rov ua dua thiab ua li cas lawv ua rau mob?
Trinucleotide repeat disorders yog ib pawg ntawm cov kab mob caj ces tshwm sim los ntawm trinucleotide rov nthuav dav, ib hom kev hloov pauv uas rov ua dua ntawm peb nucleotides ( trinucleotide rov ua dua ) nce hauv cov lej luam kom txog thaum lawv hla qhov chaw pib saum toj no uas lawv tsis ruaj khov.
Vim li cas ntev CAG rov qab tsis ruaj khov?
CAG rov ntawm HD chromosomes tau tsis ruaj khov thaum kis los ntawm niam txiv mus rau cov xeeb ntxwv. Tsis ruaj khov tshwm sim ntau zaus thiab muaj zog thaum kis los ntawm ib tug txiv neej tshaj li ntawm ib tug poj niam, nrog ib tug meej nyiam mus rau loj hlob.
Pom zoo:
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