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Video: Dab tsi yog organelle ua rau Tay Sachs?
![Video: Dab tsi yog organelle ua rau Tay Sachs? Video: Dab tsi yog organelle ua rau Tay Sachs?](https://i.ytimg.com/vi/EcZni-nZhF4/hqdefault.jpg)
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Tay-Sachs yog kab mob autosomal recessive tshwm sim los ntawm kev hloov pauv hauv ob qho tib si ntawm a noob (HEXA) rau chromosome 15. HEXA cov lej rau alpha subunit ntawm enzyme β-hexosaminidase A. Cov enzyme no muaj nyob hauv lysosomes , organelles uas zom cov molecules loj rau rov ua dua los ntawm lub cell.
Ib yam li ntawd, Tay Sachs tshwm sim los ntawm dab tsi?
Cov noob tsis zoo ntawm chromosome 15 (HEX-A) vim Tay - Sachs kab mob. Cov noob no puas ua lub cev kom tsis txhob ua cov protein hu ua hexosaminidase A. Yog tsis muaj cov protein no, cov tshuaj hu ua gangliosides tsim nyob rau hauv cov hlab ntsha hauv lub hlwb, ua rau cov hlwb puas.
Tsis tas li ntawd, Tay Sachs cuam tshuam li cas rau lysosomes? Tsis pub dhau lysosomes , beta-hexosaminidase A pab ua kom cov rog rog hu ua GM2 ganglioside. Vim Tay - Sachs kab mob ua rau txoj haujlwm tsis zoo ntawm a lysosomal ua enzyme thiab koom nrog kev tsim ntawm GM2 ganglioside, tus mob no yog qee zaum hu ua a lysosomal cia mob los yog GM2-gangliosidosis.
Tom qab ntawd, ib tug kuj yuav nug, vim li cas ho tsis muaj kev kho mob rau Tay Sachs?
Tay - Sachs kab mob yog tshwm sim los ntawm kev hloov pauv hauv cov noob HEXA thiab cov qub txeeg qub teg yog autosomal recessive. Tam sim no muaj yog tsis muaj kev kho rau Tay - Sachs kab mob, thiab muaj yog tsis muaj cov kev kho mob uas ua rau qeeb qhov kev loj hlob ntawm tus kab mob. Kev kho mob lub hom phiaj txhawm rau txo cov tsos mob thiab ua kom lub neej zoo.
Leej twg thiaj yuav kis tau tus kab mob Tay Sachs?
Txhua xyoo, txog 16 tus neeg mob Tay - Sachs yog kuaj mob hauv Tebchaws Meskas. Txawm hais tias cov neeg ntawm Ashkenazi Cov Neeg Yudais cov cuab yeej cuab tam (ntawm nruab nrab thiab sab hnub tuaj European qhovntsej thiaj tsis mob) yog ntawm siab tshaj txaus ntshai, cov neeg ntawm Fabkis-Canadian / Cajun cuab yeej cuab tam thiab Irish cuab yeej cuab tam muaj kuj tau pom muaj cov Tay - Sachs noob.
Pom zoo:
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HEXA noob muab cov lus qhia rau ua ib feem ntawm cov enzyme hu ua beta-hexosaminidase A, uas ua lub luag haujlwm tseem ceeb hauv lub hlwb thiab tus txha caj qaum. Cov enzyme no nyob hauv lysosomes, uas yog cov qauv hauv cov hlwb uas zom cov tshuaj lom thiab ua raws li cov chaw rov ua dua tshiab
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