Dab tsi ua rau kev tshuaj ntsuam genetic kab mob

Caj kab mob muaj xws li ib tug loj pawg ntawm cov kab mob uas tshwm sim los ntawm kev hloov nyob rau hauv noob qauv. Cia peb kawm saib yog dab tsi ua rau ntawm cov pathologies.

Noob ntawm tib neeg cov kab mob yog feem ntau tshwm sim los ntawm change nyob rau hauv lub yam ntxwv noob, uas nqa tawm lawv muaj nuj nqi los ntawm lub synthesis ntawm polypeptides, nyob rau hauv lwm yam lus - lub proteins. Tej noob hloov entails hloov nyob rau hauv cov qauv los yog nqi ntawm cov protein.

Tej cov kab mob pib nrog cov thawj cov nyhuv ntawm cov mutant allele. Yog hais tias ib tug nws rau schematically depict noob noob neeg, muaj yuav chiv tau ib tug mutant allele, uas ntws mus rau hauv lub hloov thawj khoom, uas ua nyob rau hauv ib lub cell kis ib cov saw ntawm biochemical dab, uas ua rau ua rau cov kev hloov nyob rau hauv nruab nrog cev thiab cov nqaij mos, thiab ces tag nrho cov kab mob.

Xav lub caj kab mob ntawm lub molecular theem, cov variants yuav qhia tau:

- zus tau tej cov ib tug dhau heev npaum li cas ntawm cov noob khoom,

- lub synthesis ntawm ib qho txawv txav protein

- cov tsis muaj ntau lawm,

- raws li zoo raws li lub zus tau tej cov ib tug txo nqi cov thawj cov khoom.

Caj kab mob tsis xaus ntawm lub molecular theem. Lawv pathogenesis tseem tsim nyob rau cellular theem. Nyob rau hauv no kev twb kev txuas nws yuav tsum tau muab sau tseg tias tus taw tes ntawm daim ntawv thov ntawm cov hloov noob nyob rau hauv ntau yam kab mob muaj peev xwm yuav ob leeg lub cev nyob rau hauv Feem ntau, thiab cais cellular lug xws li week, peroxisomes, lysosomes, mitochondria.

Ib qho tseem ceeb feature ntawm kev tshuaj ntsuam genetic txawv txav yog hais tias lawv cov kev soj ntsuam ces, raws li zoo raws li tus nqi thiab heev ntawm txoj kev loj hlob yog txiav txim nyob rau theem ntawm cov genotype ntawm tus kab mob, cov ib puag ncig tej yam kev mob, lub hnub nyoog ntawm tus neeg mob, thiab cov zoo li.

Ib tug yam ntxwv feature ntawm lub caj heterogeneity yog pathologies. Qhov no qhia hais tias tus phenotypic qhia ntawm tus kab mob tej zaum yuav yog vim txawv change uas tshwm sim nyob rau hauv ib zaug xwb noob los yog nyob rau hauv sib txawv noob. Qhov no yog thawj tsim nyob rau hauv 1934 los ntawm cov renowned soj ntsuam nyob rau hauv lub teb ntawm noob caj noob ces S.N.Davidenkovym.

Raws li rau monogenic ntaub ntawv ntawm cov kev tshuaj ntsuam genetic txawv txav, raws li cov kev cai ntawm Mendel, lawv yog pub. Nyob rau hauv lem, monogenic ntaub ntawv yuav tsum tau muab faib los ntawm hom ntawm qub txeeg qub teg, namely autosomal recessive, autosomal hom, thiab ua ke nrog rau cov Y- los yog X-chromosomes.

Tag nrho cov kev tshuaj ntsuam genetic kab mob no yuav tsum txwv kom muab zais los ntawm ib tug xov tooj ntawm cwj pwm, thiab qhov loj tshaj plaws pab pawg neeg nyob rau hauv rooj plaub no yuav tsum pub metabolic cov kab mob. Yuav luag tag nrho cov ntawm lawv yuav mus rau ib qho autosomal recessive yam. Qhov ua rau ntawm cov pathological tej yam kev mob yog tus tsis muaj ib tug enzyme uas yog lub luag hauj lwm rau lub synthesis ntawm cov amino acids. Cov no muaj xws cov kab mob xws li phenylketonuria, qhov muag-cutaneous albinism thiab homogentisuria.

Cov tom ntej no pab pawg neeg loj ntawm caj kab mob txuam nrog metabolic mob. Glycogen kab mob, galactosemia - yog cov piv txwv teej tug mus rau qhov no pab pawg neeg.

Raws li los ntawm cov kab mob uas yog ncaj qha mus txog rau lipid metabolism - namely Gaucher kab mob, Niemann-De kab mob thiab cov zoo li.

Caj kab mob nyob rau hauv tib neeg, dua li cov neeg twb hais, cov dej num

- raws roj ntsha cov kab mob ntawm lub pyrimidine thiab purine metabolism,

- pathologies txuam nrog connective cov ntaub so ntswg mob,

- pub mob ntawm circulating cov nqaijrog,

- kab mob ntawm ncaj qha qhov tseeb rau metabolism mob nyob rau hauv erythrocytes,

- raws roj ntsha pathology co pauv,

- thiab syndromes uas ua rau malabsorption dab nyob rau hauv lub digestive system.

Nyob rau hauv tas li ntawd mus rau lub saum toj no peb ntxiv hais tias lub tsev lag luam ntawm lub roj ntsha xwm ntawm tus kab mob yog raws li nyob rau hauv cov kev soj ntsuam thiab genealogical txoj kev.