Noob, genome, chromosome: txhais, qauv, muaj nuj nqi

"Noob", "noob", "chromosome" - lo lus uas yeej paub rau txhua schoolchild. Tab sis lub tswv yim ntawm cov teeb meem no haum generalized li mus tob zuj zus nyob rau hauv biochemical zoov nuj txeeg yuav tsum tau tshwj xeeb kev txawj ntse thiab lub siab xav to taub tag nrho. Thiab nws yog, yog hais tias nws yog tam sim no nyob rau theem ntawm kev xav, nws disappears sai sai nyob rau hauv lub qhov hnyav ntawm kev nthuav qhia. Wb sim kom to taub lub intricacies ntawm kev tshuaj ntsuam genetic ntaub ntawv nyob rau hauv lub scientific thiab ncov qaumteb qabteb daim ntawv.

Yuav ua li cas yog ib tug noob?

Noob - qhov tsawg tshaj plaws particle ntawm cov yam ntxwv thiab tej lus qhia ntawm caj nyob rau hauv uas muaj sia nyob. Yeej tseem zoo nws yog ib tug me me daim DNA, uas muaj cov kev txawj ntse txog cov kev amino acid ib theem zuj zus los mus tsim protein los yog haumxeeb RNA (uas yuav kuj yuav tsim protein). Lub noob thiab txiav txim seb tus yam ntxwv uas yog pub thiab tau kis rau lub xeeb leej xeeb ntxwv ntawm lub genealogical saw. Ib txhia tib-celled kab mob, muaj noob hloov, uas tsis yog hais txog mus rau lub tu tub tu kiv ntawm lawv tus kheej zoo, nws yog hu ua kab rov tav.

"Nyob rau hauv lub xub pwg nyom" ntawm noob yog ib tug zoo luag hauj lwm rau li cas nws yuav zoo thiab ua hauj lwm txhua txhua cell thiab kab mob raws li ib tug tag nrho. Lawv tswj peb lub neej los ntawm lub caij ntawm conception rau lub xeem ua tsis taus pa.

Tus thawj scientific kauj ruam rau pem hauv ntej nyob rau hauv txoj kev tshawb no ntawm caj yog ua los ntawm lub Austrian monk Gregor Mendel, uas nyob rau hauv 1866 luam tawm nws cov tswvyim nyob rau hauv cov kev tshwm sim nyob rau hauv lub hla ntawm taum mog. Mob muaj keeb khoom, uas nws siv kom meej meej pom tej yam tshwm sim ntawm kis tau tus mob qauv, xws li xim thiab cov duab ntawm taum mog thiab paj. Qhov no monk formulated rau cov kev cai uas tsim thaum pib ntawm noob caj noob ces raws li ib tug science. Qub txeeg qub teg ntawm noob yog vim hais tias cov niam txiv muab lawv cov me nyuam rau ib nrab ntawm nws cov chromosomes. Yog li, tej yam tshwm sim ntawm niam thiab txiv, nws tsim tau ib cov tshiab ua ke ntawm twb uas twb muaj lawm nta. Qhov zoo ces, cov kev xaiv uas tseem ntau tshaj cov nyob quavntsej ntawm cov ntiaj chaw, thiab nws yog tsis yooj yim sua mus nrhiav ob kiag li zoo tib yam beings.

Mendel pom tias raws roj ntsha yam tsis mixed, thiab yog kis tau nyob rau hauv daim ntawv ntawm cov discrete (cais) units los ntawm cov niam txiv rau cov xeeb ntxwv. Cov units yuav qhia nyob rau hauv lub nrws officers (alleles) nyob twj ywm discrete thiab kis tau mus rau succeeding tiam nyob rau hauv cov txiv neej thiab poj niam gametes, txhua tus uas muaj ib tug unit ntawm ib khub. Nyob rau hauv 1909, ib tug Danish botanist Johannsen hu ua cov units ntawm noob. Nyob rau hauv 1912, ib tug geneticist los ntawm lub tebchaws United States of America, Morgan pom tias lawv yog nyob rau hauv lub chromosomes.

Txij thaum ntawd los, nws coj ntau tshaj li ib nrab xyoo pua, thiab kev tshawb fawb muaj ntau farther than Mendel yuav muaj imagined. Thaum lub caij, zaum tau tswm rau lub tswv yim hais tias cov ntaub ntawv nyob rau hauv lub noob, txiav txim txoj kev loj hlob, kev loj hlob thiab muaj nuj nqi uas muaj sia nyob. Thiab tej zaum txawm lawv tuag.

kev faib

noob qauv muaj tsis tau tsuas yog cov lus qhia txog cov protein, tab sis kuj qhia tau tias thaum twg thiab yuav ua li cas nws yog nyeem ntawv, thiab tas cov zajlus tsim nyog los qhia cov lus qhia txog qhov sib txawv ntawm cov nqaijrog thiab nres lub synthesis ntawm cov ntaub ntawv molecules.

Muaj ob hom ntawm noob:

1. Lub Khoos Loos Tsev - lawv muaj ntaub ntawv txog cov qauv ntawm cov nqaijrog los yog RNA chains. Lub nucleotide ib theem zuj zus raws nkaus Ii mus rau lub amino acids.
2. Kev noob lub luag hauj lwm rau qhov tseeb qauv ntawm qhov seem uas DNA feem ntawm lub synchronism ib theem zuj zus, thiab nyeem nws.

Rau hnub tim, zaum no tau teb cov lus nug: yuav ua li cas muaj ntau yam noob nyob rau hauv lub chromosome? Cov lus teb yuav surprise koj: txog peb billion officers. Thiab qhov no yog tsuas yog ib tug ntawm nees nkaum peb. Genome yog qhov tsawg tshaj plaws yam ntxwv tsev, tab sis nws muaj peev xwm hloov ib tug neeg lub neej.

change

Yuam kev los yog txhob txwm hloov ntawm nucleotide sequences nyob rau hauv lub DNA strand, hu ua ib tug hloov. Nws yuav tsis yog muaj feem xyuam rau cov qauv ntawm cov protein, thiab muaj peev xwm kiag li distort nws cov khoom. Yog li ntawd, yuav lub zos thiab ntiaj teb no uas siv xws li ib tug hloov.

By lawv tus kheej, change tej zaum yuav pathogenic, uas yog tshwm sim raws li tus kab mob los yog tuag, tsis tas lub cev ua los tsim rau hauv ib tug zaum lub xeev. Tab sis feem ntau ntawm cov kev hloov yog pob tshab rau tus tib neeg. Tua tej yaam tawm thiab duplications tas li cog lus nyob rau hauv lub DNA, tab sis tsis muaj kev cuam tshuam hauv chav kawm ntawm lub neej ntawm txhua tus neeg.

Deletion - ib tug tsis chromosome cheeb tsam uas muaj tej yam lus qhia. Tej zaum cov kev hloov no yog pab rau lub cev. Lawv pab nws tiv thaiv tiv thaiv sab nraud aggression, xws li human immunodeficiency virus thiab cov kab mob plague.

Individuals - ib tug doubling ntawm lub chromosome cheeb tsam, thiab chaw pib lub teeb ntawm cov noob uas nws muaj, nws yog tseem ob npaug. Vim hais tias ntawm cov repetition ntawm cov ntaub ntawv, nws yog kev kawm mus rau tsawg chaw ua taus zes, thiab yog li ntawd yuav noog change thiab hloov lub cev sai.

zog noob

Txhua tus neeg muaj ib tug lossis loj DNA molecule. Noob - ib tug haumxeeb chav tsev nyob rau hauv nws cov qauv. Tab sis txawm cov chaw me me muaj lawv tus kheej cim thaj chaw uas tso cai rau kom lub stability ntawm cov organic lub neej:

1. Readability - muaj peev xwm tsis sib tov noob.
2. Stability - lub preservation ntawm cov qauv thiab cov khoom.
3. Lability - lub peev xwm los hloov nyob rau hauv tus ntawm tshwm sim, kom pab tau rau ib tug hostile ib puag ncig.
4. Ntau allelism - hav zoov nyob rau hauv lub DNA ntawm noob uas, encoding tib protein muaj ntau qauv.
5. Allelic - muaj ob hom ntawm ib tug noob.
6. Tseem - ib tug kos npe rau = ib noob yog pub.
7. Pleiotropy - multiplicity ntawm los ntawm ib tug tib noob.
8. Expressivity - heev hais uas yog kho los ntawm cov noob.
9. Penetrance - zaus ntawm lub genotype nyob rau hauv lub noob.
10. Amplification - tshwm sim ntawm teeb meem loj noob daim ntawv xov tooj nyob rau hauv DNA.

genome

Cov tib neeg genome - yog tag nrho raws roj ntsha khoom, uas yog nyob rau hauv ib tug tib neeg ntawm tes. Hais tias nws muab kev cob qhia rau qhov kev siv ntawm lub cev, cov kabmob, cov physiological kev hloov. Qhov thib ob txhais ntawm lub sij hawm no qhia cov qauv ntawm cov tswvyim, es ib tug muaj nuj nqi. Cov tib neeg genome - ib tug sau ntawm kev tshuaj ntsuam genetic khoom ntim rau hauv ib tug haploid txheej chromosomes (23 officers) thiab muaj feem xyuam rau ib hom.

Lub hauv paus ntawm lub genome yog ib tug qauv ntawm deoxyribonucleic acid zoo lub npe hu ua DNA. Tag nrho genomes muaj tsawg kawg yog ob hom ntawm cov ntaub ntawv: lub cim qhia txog ntawm cov qauv ntawm molecules intermediary (lub thiaj-hu ua RNA) thiab protein (cov ntaub ntawv no yog muaj nyob rau hauv cov noob), raws li zoo raws li cov lus qhia uas txhais tau lub sij hawm thiab qhov chaw ntawm cov zaub uas cov ntaub ntawv no nyob rau hauv txoj kev loj hlob ntawm ib tug kab mob. Noob lawv tus kheej nyob ib tug me me ib feem ntawm lub genome, tab sis yog nws cov hauv paus. Cov ntaub ntawv sau nyob rau hauv lub noob - ib yam ntawm cov phau ntawv qhia rau cov ntau lawm ntawm cov nqaijrog, qhov yooj yim lub tsev blocks ntawm peb lub cev.

Txawm li cas los, rau ib tug ua tiav characterization ntawm lub genome insufficiently incorporated rau hauv nws cov lus qhia txog cov qauv ntawm cov proteins. Xav paub ntau ntxiv txog lub ntsiab ntawm lub caj apparatus, uas coj ib feem nyob rau hauv lub chaw ua hauj lwm ntawm cov noob tswj lawv qhia ntawm ntau theem ntawm kev loj hlob thiab nyob rau hauv txawv lub neej.

Tab sis txawm qhov no yog tsis txaus rau ib tug tag nrho kev txiav txim ntawm lub genome. Vim hais tias nyob rau hauv nws tseem muaj ntsiab uas ua rau kom nws cov self-tu tub tu kiv (replication), compact pob DNA nyob rau hauv lub nucleus, thiab txawm ib co coj txawv txawv tsis tau chaw, tej zaum hu ua "qia dub" (uas yog, yog hais tias tsuas rau lub neeg ua hauj lwm lawv tus kheej). Rau tag nrho cov yog vim li cas, thaum lub caij thaum nws los txog rau lub genome, feem ntau yog muaj nyob rau hauv lub siab lub totality ntawm cov DNA sequences qhia nyob rau hauv lub chromosomes ntawm lub cell nuclei ntawm ib tug tej yam ntawm tus kab mob no, xws li, ntawm chav kawm, thiab noob.

Qhov luaj li cas thiab cov qauv ntawm cov genome

Nws yog ib zajlus kom xav hais tias cov noob, noob, chromosome yog txawv nyob rau hauv txawv cov neeg sawv cev ntawm lub neej nyob rau lub ntiaj teb. Lawv yuav ua tau raws li infinitely me me thiab loj loj thiab muaj ib tug billions ntawm officers ntawm noob. Qauv ntawm cov noob yuav kuj yog nyob ntawm seb seb koj xyuas uas nws genome.

Los ntawm tus piv ntawm qhov loj ntawm lub genome thiab tus naj npawb ntawm nws neeg noob ntawm ob tug cov chav kawm yuav txawv:

1. Compact genomes uas yog tsis ntau tshaj kaum lab bases. Lawv muaj ib tug txheej ntawm cov noob yog xav correlated nrog loj. Qhov tseem cov yam ntxwv ntawm cov kab mob thiab prokaryotes.
2. Nws kim heev genomes muaj ntau tshaj 100 lab puag officers, tsis muaj kev sib raug zoo ntawm lawv ntev thiab tus naj npawb ntawm cov noob. Ntau ntau nyob rau hauv eukaryotes. Feem ntau ntawm cov nucleotide sequences nyob rau hauv cov hoob kawm no tsis encode cov nqaijrog los yog RNA.

Kev tshawb fawb pom tau hais tias muaj txog 28,000 noob nyob rau hauv tus tib neeg lub genome. Lawv unevenly faib thoob plaws hauv lub chromosomes, tab sis qhov muaj nqis ntawm no feature tseem yog ib tug paub tsis meej rau zaum.

chromosome

Chromosomes - yog ib tug qauv ntawm cov ntim ntawm lub caj khoom. Lawv muaj nyob rau hauv lub nucleus ntawm eukaryotic hlwb, thiab txhua tus muaj ib tug ntev heev DNA molecule. Lawv tau yooj yim yuav pom nyob rau hauv lub teeb tshuab kuaj kab mob nyob rau hauv lub fission cov txheej txheem. Karyotype yog hu ua ib tug tag nrho pawg ntawm cov chromosomes, uas yog hais rau txhua hom. Yuav Tsum hais txog lawv yog cov centromere, telomere thiab replication point.

Cov kev hloov ntawm chromosomes thaum lub sij hawm cell division

Noob, genome, chromosome - ib tug serial cov ntaub ntawv kis tau tus mob Circuit Court units, qhov twg txhua muaj xws li cov nram qab no yav dhau los. Tab sis lawv yauv mus ua tej yam kev hloov nyob rau hauv lub chav kawm ntawm lub neej ntawm lub cell. Piv txwv li, nyob rau hauv lub interphase (nruab nrab ntawm kev sib cais) nyob rau hauv lub nucleus chromosomes cov txheej txheem dim de, coj mus ntau qhov chaw.

Thaum lub cell npaj rau mitosis (m. E. Yuav kom ib tug sib cais txheej txheem nyob rau hauv ob), cov chromatin condenses thiab yog cov mus rau hauv lub chromosomes, thiab tam sim no nws yuav pom nyob rau hauv lub teeb tshuab kuaj kab mob. Nyob rau hauv metaphase chromosomes li rods pov tseg ze rau txhua lwm yam thiab kev cob cog rua rau cov thawj constriction los yog centromere. Nws yog lub luag hauj lwm rau hauv lub tsim ntawm mitotic ntxaiv, thaum ib pab pawg neeg ntawm chromosomes kab. Nyob rau qhov chaw ntawm lub centromere, muaj tshwm sim ib tug kev faib ntawm chromosomes:

1. Acrocentric - nyob rau hauv cov ntaub ntawv no, lub centromere yog nyob diametrically nrog hwm rau qhov chaw ntawm lub chromosome.
2. Submetacentric thaum lub xub pwg nyom (uas yog, qhov chaw uas yog cov ua ntej thiab tom qab lub centromere) ntawm zoo tib ntev.
3. Metacentric yog hais tias tus centromere cais lub chromosome raws nraim nyob rau hauv nruab nrab.

Qhov no kev faib ntawm lub chromosomes twb npaj siab nyob rau hauv 1912 thiab yog siv los ntawm biologists kom txog rau thaum hnub no.

chromosome anomalies

Raws li nrog rau lwm cov morphological ntsiab ntawm muaj sia, cov chromosomes tej zaum kuj yuav tshwm sim yam ntxwv kev hloov uas muaj feem xyuam rau lawv muaj nuj nqi:

1. Aneuploidy. Qhov kev hloov no nyob rau hauv tag nrho cov xov tooj ntawm cov chromosomes nyob rau hauv lub karyotype los ntawm kev ntxiv los yog tshem ib tug ntawm lawv. Cov teebmeem ntawm tej change tej zaum yuav tuag mus rau hauv plab fetus, tab sis kuj ua rau menyuam yug los tsis.
2. Polyploidy. Nws manifested raws li ua pes tsawg tus chromosomes, ntau yam ib nrab lawv tus xov tooj. Feem ntau cov feem ntau pom nyob rau hauv cov nroj tsuag, xws li algae thiab fungi.
3. Chromosomal aberrations, los yog hloov tshiab, - ib tug kev hloov nyob rau hauv lub qauv ntawm cov chromosome nyob rau hauv tus ntawm ib puag ncig yam tseem ceeb.

noob caj noob ces

Noob caj noob ces - qhov kev kawm uas kawm cov kev cai ntawm caj thiab variation, raws li zoo raws li kom ntseeg tau lawv cov roj ntsha mechanisms. Tsis zoo li ntau lwm yam lom sciences nws los ntawm nws cov inception, nws tau nrhiav kom tau ib tug pes tsawg science. Tag nrho cov keeb kwm ntawm noob caj noob ces - yog zaj dab neeg txog lub creation thiab siv cov ntau thiab ntau yog txoj kev thiab le caag. Lub tswv yim thiab txoj kev noob caj noob ces ua si ib qho tseem ceeb luag hauj lwm nyob rau hauv cov tshuaj, ua liaj ua teb, kev tshuaj ntsuam genetic engineering, microbiology kev lag luam.

Caj - lub cev muaj peev xwm mus muab nyob rau hauv ib tug series ntawm to taub saab laaj ntawm morphological, biochemical thiab physiological yam ntxwv thiab nta. Nyob rau hauv tus txheej txheem ntawm qub txeeg qub teg ua si loj hom kev, pab pawg neeg (haiv neeg, pejxeem) thiab tsev neeg tus yam ntxwv ntawm cov qauv thiab cov hauj lwm ntawm tus kab mob no thiab lawv ontogeny (tus neeg txoj kev loj hlob). Tsis tsuas yog pub tej yam ntxwv thiab tej yam ntxwv ntawm lub cev (lub ntsej muag nta, ib co yam ntxwv ntawm lub metabolic dab, siab luv li al.), Tab sis kuj cov physicochemical nta ntawm cov qauv thiab cov lag luam los ntawm cov yooj yim cell ntawm biopolymers. Variability - ib tug ntau yam ntawm cov tsos mob ntawm cov tej hom, raws li zoo raws li lub vaj tse ntawm lub xeeb leej xeeb ntxwv ntawm purchase sib txawv los ntawm niam txiv cov ntaub ntawv. Variability nrog caj yog ob tug inseparable zog uas muaj sia nyob.

Down syndrome

Down syndrome - ib tug kev tshuaj ntsuam genetic kab mob nyob rau hauv uas karyotype muaj 47 chromosomes nyob rau hauv tus tib neeg lub es tsis txhob ntawm lub niaj zaus 46. Qhov no yog ib daim ntawv ntawm aneuploidy, raws li tau sib tham txog saum toj no. Nyob rau hauv nees nkaum-thawj khub ntawm chromosomes muaj ntxiv uas ntxiv caj ntaub ntawv nyob rau hauv tus tib neeg lub genome.

Nws lub npe syndrome lub npe hu ua tom qab tus kws kho mob, Don Down, uas pheej nrhiav thiab piav txog nws nyob rau hauv cov ntawv nyeem raws li ib daim ntawv ntawm kev puas hlwb tsis meej nyob rau hauv 1866. Tab sis kev tshuaj ntsuam genetic tom qab tau raug nrhiav tau yuav luag ib puas xyoo tom qab.

Epidemiology

Thaum lub caij, lub karyotype ntawm 47 chromosomes nyob rau hauv tib neeg tshwm sim ib zaug nyob rau hauv ib txhiab cov me nyuam mos (hu ua Statistics yog txawv). Qhov no twb ua tau ua tsaug rau lub kuaj pom thaum ntxov ntawm no pathology. Tus kab mob tsis yog nyob ntawm seb haiv neeg, haiv neeg keeb kwm los yog leej niam ntawm nws kev sib raug zoo raws li txoj cai. Los ntawm lub hnub nyoog. Cov yuav muaj ib tug me nyuam nrog Down syndrome nce tom qab peb caug-tsib xyoo, thiab tom qab plaub caug faib ua feem ntawm kev noj qab nyob cov me nyuam rau cov neeg mob twb sib npaug zos rau 20 mus rau 1. Lub hnub nyoog ntawm lub txiv tshaj plaub caug xyoo tseem tsub kom tau txoj kev muaj ib tug me nyuam nrog aneuploidy.

Daim ntawv ntawm Down syndrome

Cov feem ntau variant - lub rov tshwm sim ntawm ib tug ntxiv chromosome nyob rau hauv nees nkaum-thawj khub uas tsis yog-raws roj ntsha txoj kev. Nws yog vim lub fact tias thaum lub sij hawm ob peb lub meiosis tsis pom zoo rau cov kev faib ntxaiv. Tsib feem pua ntawm cov neeg mob cai mosaicism (ntxiv chromosome muaj tsis tag nrho cov hlwb ntawm lub cev). Ua ke lawv ua li cuaj caum-tsib feem pua ntawm tag nrho cov xov tooj ntawm cov neeg uas muaj no congenital kho raws. Qhov seem tsib feem pua ntawm cov syndrome yog tshwm sim los ntawm ib tug hereditary trisomy nees nkaum-thawj chromosome. Txawm li cas los, cov me nyuam yug ntawm ob tug me nyuam nrog tus kab mob no nyob rau hauv tib lub tsev neeg tsuas yog me ntsis.

lub tsev kho mob

Ib tug neeg uas Down syndrome yuav tsum tau yuav paub los ntawm cov yam ntxwv sab nraud nta, ntawm no yog ib co ntawm lawv:

- flattened lub ntsej muag;
- ib tug shortened pob txha taub hau (transverse dimension ntau dua qhov longitudinal);
- daim tawv nqaij quav rau lub caj dab;
- fold ntawm daim tawv nqaij uas npog lub puab ces kaum ntawm lub qhov muag;
- ntev kev mus ncig ntawm cov pob qij txha;
- tsis leeg laus;
- flattening ntawm sab nraum qab ntawm lub taub hau;
- luv luv ceg ntoo thiab cov ntiv tes;
- txoj kev loj hlob ntawm cataracts nyob rau hauv cov me nyuam laus tshaj yim xyoo;
- anomalies ntawm cov hniav thiab palate;
- congenital plawv kab mob;
- tej zaum yuav muaj ib tug epileptic syndrome;
- leukemia.

Tab sis kom meej meej muaj tus mob raws li tsuas yog nyob rau sab nraud ces, ntawm chav kawm, tsis yooj yim sua. Tsim nyog rau karyotyping.

xaus

Noob, noob, chromosome - nws nkawd hais tias nws yog ib lo lus uas nws lub ntsiab lus peb to taub collectively thiab heev remotely. Tab sis nyob rau hauv qhov tseeb, lawv xav li cas rau peb lub neej thiab hloov, thiab peb yuav yuam kom hloov. Tus txiv neej yeej paub yuav ua li cas kom pab tau rau qhov kev tshwm sim, txawm lawv, thiab txawm rau cov neeg uas muaj kev tshuaj ntsuam genetic txawv txav muaj yog ib txwm ib lub sij hawm thiab qhov chaw uas lawv yuav tsum irreplaceable.