Qhov sib txawv tseem ceeb ntawm caj ces thiab kab mob hauv lub cev yog cov kab mob caj ces yog tshwm sim los ntawm cov noob caj noob ces los yog chromosome txawv txav thaum yug los lossis tom qab yug me nyuam, thaum lub cev xeeb tub yog qhov txawv txav ua ntej yug.
Ib noob yog ib ntu ntawm DNA uas muaj cov lus qhia los tsim ib qho molecule hauv lub cev, feem ntau yog cov protein. Cov noob tswj kev ua haujlwm lom neeg, suav nrog kev loj hlob ntawm embryological, kev loj hlob ntawm fetus, metabolism, tus cwj pwm, kev paub, thiab kev loj hlob. Chromosomes yog cov khoom siv caj ces nyob rau hauv lub cell uas dais cov noob. Yog li ntawd, cov noob muaj nyob rau hauv chromosomes nyob rau hauv lub nucleus. Cov kab mob caj ces tshwm sim vim qhov txawv txav ntawm cov khoom siv caj ces raws li theem ntawm cov kab mob hauv lub cev los yog thaum ntxov embryo. Congenital disorders yog cov uas tshwm sim thaum yug los lossis thaum ntxov.
Dab tsi yog Kev Mob Ntshav Qab Zib?
Ib yam kab mob caj ces yog teeb meem kev noj qab haus huv cuam tshuam nrog ib lossis ntau qhov txawv txav hauv genome thaum yug los lossis tom qab yug menyuam. Kev hloov pauv hauv ib lub noob (monogenic) lossis ntau cov noob (polygenic), lossis chromosomal abnormality ua rau muaj kev mob caj ces. Cov kab mob polygenic yog qhov tshwm sim ntau tshaj plaws, thiab cov kev hloov pauv no tshwm sim spontaneously ua ntej embryonic txoj kev loj hlob los yog vim autosomal recessive thiab dominant qub txeeg qub teg. Xws li kev mob caj ces raug cais raws li kev mob caj ces. Cov kab mob caj ces muaj tshwm sim ua ntej yug me nyuam, thiab qee qhov ua rau yug me nyuam. Qee qhov mob qog noj ntshav xws li BRCS kev hloov pauv kuj yog cov kab mob caj ces.
Daim duab 01: Autosomal Recessive Genetic Disorder
Ib leeg noob lossis cov kab mob monogenic yog tshwm sim los ntawm ib tus noob hloov pauv. Cov kab mob no kis mus rau tiam tom ntej. Cov kab mob Monogenic muaj ntau hom, xws li autosomal recessive, autosomal dominant, X-txuas recessive, X-linked dominant, thiab Y-txuas kab mob. Huntington tus kab mob thiab ntau yam kab mob exostoses yog cov kab mob autosomal tseem ceeb, thaum cystic fibrosis, albinism, thiab mob qog noj ntshav yog cov kab mob autosomal recessive. Klinefelter syndrome thiab X-linked hypophosphatemic rickets yog cov kab mob X-txuas tseem ceeb, thiab haemophilia A, Lesch-Nyhan syndrome, xim dig muag, thiab Turner syndrome yog cov kab mob X-txuas recessive. Y-txuas kab mob feem ntau tsis tshua muaj, tab sis lawv tuaj yeem ua rau cov txiv neej tsis muaj menyuam. Ntau yam gene lossis polygenic mob tshwm sim vim muaj kev cuam tshuam hauv ntau cov noob nrog rau kev ua neej thiab ib puag ncig. Cov kab mob plawv, ntshav qab zib, mob qog noj ntshav, ntau yam sclerosis, rog rog, mob hawb pob, thiab muaj menyuam tsis muaj menyuam yog cov piv txwv ntawm polygenic mob. Cov kab mob chromosomal yog tshwm sim los ntawm qhov ploj lawm, ntxiv, lossis qhov tsis sib xws ntawm chromosomal DNA hauv cov noob. Down syndrome yog ib qho piv txwv.
Dab tsi yog Congenital Disorders?
Cov kab mob hauv lub cev yog cov qauv lossis kev ua haujlwm tsis zoo uas tshwm sim ua ntej yug. Cov kab mob zoo li no ua rau muaj kev xiam oob khab uas tej zaum yuav yog lub cev, kev txawj ntse, lossis kev loj hlob thiab muaj ntau yam me me mus rau qhov hnyav. Congenital disorders muaj ob hom: yam ntxwv thiab kev ua haujlwm tsis zoo. Cov kab mob tsis zoo yog qhov txawv txav nrog cov duab ntawm lub cev lossis ib feem ntawm lub cev. Kev ua haujlwm tsis zoo muaj xws li metabolic thiab degenerative disorders. Congenital disorders kuj tshwm sim los ntawm caj ces thiab chromosomal teeb meem. Cov kab mob caj ces thiab cov kab mob chromosomal cuam tshuam nrog cov noob caj ces txawv txav los ntawm niam lossis txiv lossis kev hloov pauv hauv cov kab mob.
Daim duab 02: Lub Plawv Tsis Zoo
Cov tshuaj thiab cov tshuaj xws li tetracycline, tshuaj tiv thaiv kab mob hormonal, tshuaj teratogenic, pab pw tsaug zog, thiab tshuaj tiv thaiv kab mob rau cov poj niam cev xeeb tub kuj ua rau muaj kab mob hauv lub cev. Cov tshuaj lom neeg xws li carbon monoxide, nitrates, nitrites, fluorides, chlorides, thiab cov hlau hnyav kuj ua rau muaj teeb meem hauv plab. Qee yam kab mob xws li kab mob kis kab mob sib kis, rubella, kab mob herpes simplex, toxoplasmosis, hyperthermia, thiab syphilis ncaj qha kis los ntawm leej niam mus rau embryo, ua rau muaj kev xeeb tub thaum cev xeeb tub lossis yug menyuam. Cov teeb meem tseem ceeb rau cov kab mob hauv lub cev muaj xws li cov poj niam muaj hnub nyoog siab tshaj, folate deficiency, haus cawv lossis haus luam yeeb thaum cev xeeb tub, ntshav qab zib, thiab cev xeeb tub hauv cov poj niam laus. Congenital disorders yog kuaj los ntawm kev tshuaj ntsuam xyuas thiab kuaj ua ntej yug menyuam. Neural tube defects, Down Syndrome, thiab lub plawv tsis xws luag yog ib yam kab mob congenital.
Dab tsi yog qhov Zoo sib xws ntawm Kev Mob caj ces thiab Congenital Disorders?
- Kev mob caj ces thiab kev xeeb tub yog kev xeeb tub.
- Lawv yog qhov tshwm sim ntawm caj ces thiab chromosomal txawv txav.
- Down Syndrome yog tshwm sim rau ob hom.
- Ntxiv mus, ob qho tib si txawv txav ntawm me me mus rau qhov hnyav.
- cov tswv yim Molecular tuaj yeem siv los kuaj xyuas ob qho tib si.
Dab tsi yog qhov txawv ntawm Kev Mob caj ces thiab Congenital Disorders?
Cov kab mob caj ces yog tshwm sim los ntawm cov noob tsis raug lossis cov chromosome txawv txav, thiab lawv qhov peev xwm tshwm sim thaum yug los, thaum lub cev xeeb tub yog qhov txawv txav uas tshwm sim ua ntej yug thiab tej zaum yuav muaj kev cuam tshuam ib puag ncig lossis caj ces. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm cov caj ces thiab cov kab mob congenital. Lo lus genetic txhais tau hais tias nws kis los ntawm niam txiv mus rau cov xeeb ntxwv, thaum lub sij hawm congenital qhia tias muaj kab mob los ntawm yug. Yog li, cov kab mob caj ces yog keeb kwm, tab sis tsis yog txhua yam kab mob congenital yog keeb kwm.
Cov hauv qab no qhia txog qhov sib txawv ntawm cov caj ces thiab cov kab mob congenital hauv daim ntawv tabular rau ib sab ntawm kev sib piv.
Summary – Genetic vs Congenital Disorders
Ib yam kab mob caj ces yog teeb meem kev noj qab haus huv cuam tshuam nrog ib lossis ntau qhov txawv txav hauv genome ntawm lossis tom qab yug menyuam. Congenital disorders yog cov qauv lossis kev ua haujlwm txawv txav uas tshwm sim thaum lossis ua ntej yug. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm cov caj ces thiab cov kab mob congenital. Cov kab mob caj ces tshwm sim los ntawm kev hloov pauv hauv ib lub noob (monogenic) lossis ntau cov noob (polygenic), lossis chromosomal abnormality ua rau muaj kev mob caj ces. Muaj ob hom kab mob congenital: yam ntxwv thiab kev ua haujlwm tsis zoo. Cov kab mob tsis zoo yog qhov txawv txav nrog cov duab ntawm lub cev lossis ib feem ntawm lub cev. Kev ua haujlwm tsis zoo muaj xws li metabolic thiab degenerative disorders.
