Gene, genome, chromosome: tsanangudzo, mamiriro, shanda

"Gene", "Gene", "mashoko okutodza" - mashoko vakajaira ose wechikoro. Asi pfungwa yacho iri zvakaenzanirana generalized sezvo kudzamisa mu nokukanganisika musango kunoda ruzivo chaiyo uye chido kunzwisisa zvose. Uye, kana aripo pachiyero kuziva, izvozvo haazombotaurwi nokukurumidza pasi kurema zvokuratidzira. Ngatiedzei kunzwisisa nezvehukorokodzwa masero mashoko ari zvesayenzi uye polar chimiro.

Chii zviratidzo?

Gene - zviduku PARTICIPLE pamusoro STRUCTURAL uye dzichipfekeka mashoko yedzinza mu zvipenyu. Zvikurukuru chinhu chiduku nhindi DNA, iro rine ruzivo pamusoro chaiyo amino iine acid kutevedzana kuvaka mapuroteni kana dzichipfekeka RNA (izvo vacharaswa synthesized mapuroteni). Majini anosarudza hunhu vari nhaka uye vakapfuurira vazukuru mazita cheni. Vamwe zvinenge kuroorwa-celled, pane Gene kuchinjirwa, iyo isina chokuita kubereka kwavo mhando, kunonzi chinjikira.

"On pamafudzi" majini mutoro kukuru sei zvichakanganisa kutarisa uye kushanda muchitokisi ose uye muviri yose. Ivo kudzora hwedu kubva panguva yokunambwa kune rokupedzisira mweya.

danho rokutanga dzesayenzi mberi mukudzidza yedzinza kwakaitwa yeAustria mumongi Gregor Mendel, uyo muna 1866 yakabudiswa ake zvaanorumbidza migumisiro iri kuyambuka pizi. Nhaka zvinhu, izvo akashandisa zvakajeka akaratidza zviratidzo yedzimudzangara mapatani, akadai ruvara uye chimiro pizi nemaruva. mumongi ichi akagadzira mitemo akaumba kutanga genetics somunhu sainzi. Nhaka majini ndechokuti vabereki vanopa mwana wavo kuti hafu okutodza kwayo. Saka, zviratidzo Baba naAmai, nokusanganisa kuumba itsva wemishonga hunotovapo zvinhu. Sezvineiwo, zvokusarudza vanopfuura zvipenyu panyika, uye hazvibviri kuwana mbiri zvachose mungashandisa venyama.

Mendel akaratidza kuti nhaka zvikonzero havasi vakavhengana, uye vari chinopfuudzwa muchimiro discrete (yoga) vezvikwata kubva vabereki vana. zvidzidzo izvi zvinoratidzwa mu specimens vaviri vaviri (alleles) kuramba discrete uye chakasvitswa Zvizvarwa mukono nehadzi gametes, imwe neimwe ine chimwe chairema peya imwe. Muna 1909, rimwe Danish nyanzvi Johannsen akadana zviumbu izvi majini. Muna 1912, mumwe geneticist kubva United States of America, Morgan akaratidza kuti vari okutodza.

Kubvira ipapo, zvakatora zvinopfuura hafu remakore, uye kuongorora mberi kure kupfuura Mendel angadai akafungidzira. Panguva iyoyo, masayendisiti vanogara pfungwa yokuti mashoko mumabhatiri kwemajini, anosarudza kuti kukura, kukura uye kushanda zvipenyu. Uye pamwe kunyange rufu rwavo.

kupatsanura

Gene mamiriro rine kwete mashoko chete pamusoro puroteni, asi anoratidzawo zviri kuverenga kana uye sei, uye isina runofarira zvakafanira kugoverana ruzivo pamusoro zvakasiyana mapuroteni uye kumisa kwetunhu mashoko mamorekuru.

Pane mhando mbiri majini:

1. Structural - dzine ruzivo nemamiriro mapuroteni kana RNA ngetani. The nucleotide kutevedzana rinoenderana amino acids.
2. Functional majini anokonzera yakarurama nemamiriro yasara DNA zvikamu synchronism urongwa, uye kuriverenga.

To musi, masayendisiti vanokwanisa kupindura mubvunzo: mangani majini vari chromosome? The mhinduro rikusvikirei: anenge mabhiriyoni matatu nomwe. Uye ichi ndicho chimwe chezvinhu maviri navatatu chete. Genome iduku STRUCTURAL Unit, asi zvinogona kuchinja upenyu hwomunhu.

kunotouraya

Netsaona kana nemaune kuchinja nucleotide sequences mukati DNA beach, inonzi mutation. Hapana kukanganisa chimiro puroteni, uye inogona kukanganisa zvachose ehupfumi ayo. Saka, vachaparidza vemo uye pose zvinorehwa kuchinja kwakadaro.

By pachavo, kuti kuno- kungava pathogenic, kuti zviri pachena sezvo chirwere kana ngozi, kwete kubvumira muviri kuti ukure kuva musoro mamiriro. Asi vazhinji kuchinja kwakanyatsojeka kune munhu. Deletions uye duplications vanogara vakazvipira mukati DNA, asi regai kukanganisa mararamiro nerimwe oga.

Deletion - kurasikirwa chromosome nharaunda ine vamwe ruzivo. Dzimwe nguva kuchinja izvi zvinobatsira kuti muviri. Ivo umubatsire kuzvidzivirira pamusoro zvokunze kurwisa, akadai munhu immunodeficiency utachiona uye utachiona kutambudza.

Kuburitsa mufananidzo - mumwe doubling of chromosome nharaunda, uye nokudaro yakatarwa majini izvo rine, zviri kaviri. Nokuda kudzokororwa mashoko, zviri pasi zvishoma maberekero, uye saka anogona kuunganidza kunotouraya uye kushandura muviri nokukurumidza.

zvivako Gene

Mumwe munhu ane rakakura morekuru reDNA. Majini - kushanda chikwata mukati ayo mamiriro. Asi kunyange nzvimbo diki idzi vane ehupfumi yavo yakasiyana pachavo kuti kubvumira kuchengeta kutsiga zvipenyu:

1. Kuverenga - kukwanisa hazvipindiri magene.
2. Kugadzikana - richengetedzwe marongerwo uye zvivako.
3. Lability - kukwanisa kushandura pasi pokudzora ezvinhu, kuchinja ezvinhu outsinye.
4. Multiple allelism - kuvapo mukati DNA majini iyo, yeEncoding chete mapuroteni vari dzakasiyana mamiriro.
5. Allelic - kune mhando mbiri imwe Gene.
6. Specificity - imwe chiratidzo = mumwe jini nhaka.
7. Pleiotropy - multiplicity kuti migumisiro chete Gene.
8. Expressivity - nekuomarara chiratidzo icho encoded kubudikidza majini.
9. Penetrance - kakawanda pakati genotype iri majini.
10. Amplification - panowanikwa zvaikosha Gene kopi nhamba iri DNA.

genome

The genome kwevanhu - ndiyo nhaka zvinhu zvose, riri sero rimwe chete yevanhu. Kuti anopa nhungamiro iri kuvakwa muviri, kuti nhengo, iyo vasiri kuchinja. The tsanangudzo rokuti yechipiri inoratidza urongwa pfungwa pane basa. The genome dzevanhu - dzakaunganidzwa majini zvinhu rakazara mune haploid yakatarwa okutodza (23 nomwe) uye vakarondedzera imwe mhando.

Hwaro genome ndiyo morekuru zviri deoxyribonucleic asidhi vari zvinozivikanwa se DNA. genomes All ane mhando zviviri mashoko anoti: coded mashoko pamusoro maumbirwo mamorekuru nhume (anonzi RNA) uye mapuroteni (ruzivo iyi yaiva majini), uyewo mirayiridzo kutsanangura nguva nenzvimbo kuratidza mashoko aya ari kukura ane muviri. Majini pachavo nenzvimbo chiduku chikamu genome, asi chiri hwaro. Mashoko akanyorwa majini - rudzi anobatsira pagadzirwe mapuroteni, chikuru Dzokuvaka muviri wedu.

Zvisinei, nokuti characterization pamusoro genome kwakakwana insufficiently nevanopinda mariri mashoko pamusoro nemamiriro mapurotini. Need ruzivo pamusoro zvinhu majini midziyo, izvo kutora chikamu basa majini inodzora mashoko avo panguva dzakasiyana zvokukura kukura uye zvakasiyana muupenyu ezvinhu.

Asi kunyange izvi hazvina kukwana kuti kutsunga yakazara genome. Nokuti mairi pane zvinhu kuti uore ayo kuzvidzora kubereka (kuberekana), chiine pasuru DNA iri musimboti, uye kunyange vamwe chinoshamisa asi nzvimbo, dzimwe nguva inonzi "udyire" (ndiko kuti, kana chete nokuti vashandi pachavo). Nokuti izvi zvikonzero zvose, panguva kana totaura genome, kazhinji mupfungwa raora DNA sequences kuratidzwa mune okutodza muchitokisi nuclei ari zvipenyu, kusanganisira, Chokwadi, uye majini imwe mhando.

Kukura uye nemamiriro genome

Hazvina musoro kufunga kuti majini, Gene, chromosome yakasiyana akasiyana dzinomiririra upenyu Panyika. Vanogona kuva diki zvikuru uye makuru uye iine mabhiriyoni yegwara magene. Nemamiriro Gene kuchaitawo pakuti uchiongorora vane genome.

By nhamba pakati kukura genome uye uwandu kwayo nhengo majini mumakirasi mbiri zvinogona kupatsanurwa:

1. Compact genomes kuti havasi zvigadziko vanopfuura mamiriyoni gumi. Vane yakatarwa majini iri correlated zvakasimba saizi. The kupfuura hunhu nemavhairasi uye prokaryotes.
2. genomes akakura ine hwaro vaviri vaviri anopfuura mamiriyoni 100, vasina ukama pakati kureba hwavo uye uwandu majini. More nevakawanda eukaryotes. Vazhinji nucleotide sequences muchikoro ichi regai encode mapurotini kana RNA.

Ongororo dzakaratidza kuti pane majini anenge 28,000 ari munhu genome. Vari vanoiswa anoparadzirwa mhiri okutodza, asi kukosha chikamu ichi chinoramba zvisinganzwisiswi masayendisiti.

chromosome

Okutodza - ndiyo nzira kavha yacho masero acho. Ivo vanowanikwa musimboti masero eukaryotic, uye mumwe inoumbwa nomumwe refu chaizvo morekuru reDNA. Vanogona nyore kuoneka chiedza maikorosikopu iri fission kwacho. Karyotype anonzi kwakakwana vanochengeta okutodza, riri chaicho neimwe mhando. Fanira zvinhu navo ndivo centromere, telomere uye kuberekana pfungwa.

Kuchinja okutodza panguva muchitokisi nokupesana

Gene, genome, chromosome - a Serial date yedzimudzangara redunhu zviyero, apo mumwe nomumwe zvinosanganisira zvinotevera yapfuura. Asi ivo vanosangana zvimwe zvachinja muupenyu muchitokisi. Somuenzaniso, muna interphase (pakati pamapoka) ari musimboti okutodza vanosarudzirwa zvakasiyana-siyana, simudza nzvimbo zvikuru.

Apo sero anogadzirira mitosis (m. E. To Kuparadzana kwacho maviri), kuti chromatin condenses uye vakamonyanisa kupinda okutodza, uye zvino yava kuoneka chiedza maikorosikopu. In metaphase okutodza akafanana tsvimbo dzinongoda pedyo mumwe uye chokuita chikuru constriction kana centromere. Hazvina basa paumbwe mitotic chokurukisa, apo boka okutodza mumutsetse. Zvichienderana nzvimbo centromere, kune kupatsanura okutodza:

1. Acrocentric - iyi zvazvingava, centromere iri akasiyana zvachose panyaya nepakati chromosome.
2. Submetacentric apo pamafudzi (ndiko, nzvimbo pamberi uye mushure centromere) kuenzana.
3. Metacentric kana centromere rwokuyera chromosome chaizvo pakati.

kupatsanura ichi okutodza akanga aronga muna 1912 uye rinoshandiswa zvipenyu kusvikira nhasi.

chromosome anomalies

Kufanana nevamwe morphological zvemamiriro chipenyu muviri, okutodza muvepowo kuitika STRUCTURAL kuchinja kuti chokuita basa ravo;

1. Aneuploidy. Izvi Kuchinja uwandu okutodza mune karyotype nokuwedzera kana nokubvisa mumwe wavo. Migumisiro kunotouraya akadaro anogona kuparadza asati aberekwa mudumbu, asi anokonzerawo pakupona.
2. Polyploidy. It akaratidza sezvo kuwedzera nhamba okutodza, vakawanda hafu nhamba yavo. Most aiwanzowanika miti, dzakadai algae uye hunokuvadza.
3. Chromosomal aberrations, kana kugadzirisa, - kuchinja mune nemamiriro chromosome pasi pokudzora zvakatipoteredza zvinhu.

genetics

Dzinza rako - sayenzi kuti vanodzidza mitemo yedzinza uye kushanduka, uyewo kuunza zvigadziriswe kwavakabva. Kusiyana nezvimwe sayenzi zhinji utachiona kubva pakutanga kwayo, nokuti akatsvaka kuva sayenzi chaiyo. Nhoroondo yose genetics - ndiyo nyaya kwezvisikwa uye kushandisa nzira uye nzira dzakawanda yakarurama. Pfungwa nzira genetics basa rinokosha mune zvokurapa, kurima, kuvabereki engineering, zvidukuduku indasitiri.

Nhodzera - muviri anokwanisa kupa mu akatevedzana intergenerational chamazuva ose morphological, nemakemikari uye vasiri maitiro uye zvinhu. Mukuita wenhaka vakaridza zvikuru kwemarudzi-zvakananga, boka (kwemadzinza, population) uye maitiro mhuri marongerwo uye kushanda zvipenyu uye ontogeny yavo (nomumwe kukura). Kwete chete nhaka zvimwe STRUCTURAL uye dzichipfekeka zvechadenga muviri (chiso features, zvimwe zvaiva metabolic urongwa nevakwegura, unhu, et unto.), Asi uyewo physicochemical zviri marongerwo uye zvinoshanda chikuru yesero biopolymers. Variability - siyana zviratidzo pakati pedzimwe mhuka, uyewo pfuma zvizvarwa rwokutenga akasiyana vabereki siyana. Variability pamwe yedzinza vaviri vasingasiyani ehupfumi zvipenyu.

Down kuti urwere

Down kuti chirwere - nemagene chirwere umo karyotype inoumbwa 47 okutodza mune munhu pachinzvimbo zvatinosiita 46. Ichi ndicho chimiro aneuploidy, sezvo inokurukurwa pamusoro. Mugore rechimakumi maviri peya okutodza mune mamwe iyo inowedzera zvimwe mashoko majini ari munhu genome.

zita rayo chirwere ainzi pashure chiremba, Don Down, akawana vakarondedzera mumabhuku sezvo rudzi chepfungwa muna 1866. Asi majini kumashure yakawanikwa anenge zana pashure pemakore.

epidemiology

Panguva iyoyo, mashoko karyotype 47 okutodza mune vanhu rinooneka kamwe chiuru vachangoberekwa (aimbova Statistics akanga akasiyana). Izvi yakaitwa kuti mangwanani zvokuongorora kuti zvokurwara ichi zvichibvira kuvonga. The chirwere hakunei rudzi, dzinza mavambo kana mai vake munzanga. Vachikurudzirwa zera. Mikana yokuva mwana pamwe chirwere cheDown syndrome inowedzera pashure-matatu nemashanu, uye pashure mana zvichienzanirana vana utano varwere kare kuenzana 20 1. The makore baba makore makumi mana kunowedzerawo mikana yokuva mwana pamwe aneuploidy.

Chisiri syndrome

The inonyanya musiyano - the chidzoke ane imwe chromosome ari maviri okutanga peya vasiri enhaka nzira. Akafanirwa chokuti munguva vanechitsama meiosis hakurevi vasawirirana weboka chokurukisa. Five muzana Muzviitiko vakachengeta mosaicism (zvimwe chromosome rine kwete masero ose muviri). Pamwe chete ivo vanoumba makumi mapfumbamwe nezvishanu kubva muzana uwandu vanhu vane vachiberekwa ichi chakaremara. The yasara shanu muzana chirwere anokonzerwa nhaka Trisomy-maviri okutanga chromosome. Zvisinei, kuberekwa vana vaviri vane chirwere mumhuri imwe chete zvishoma.

kiriniki

Munhu syndrome anogona kuzivikanwa maitiro zvokunze features, pano tiri vamwe vavo;

- flattened chiso;
- munhu mupfupi dehenya (transverse divi kupfuura longitudinal);
- ganda ukagunzva pamutsipa;
- mudanga ganda anofukidza yomukati pakona ziso;
- kunyanya mufambo mapfundo;
- ungaderedza tsandanyama inzwi;
- flattening of seri musoro;
- Mbabvu pfupi uye nemimwe;
- kukura tsanga muvana vakura kupfuura makore masere;
- anomalies kwemeno uye mukanwa;
- vachiberekwa mwoyo chirwere;
- pangava tsviyo urwere;
- neleukemia.

Asi zvakajeka chirwere kunobva chete zvokunze kuratidzwa Chokwadi, hazviiti. Zvaanofanira karyotyping.

mhedziso

Gene, Gene, chromosome - zvinoratidzika kuti chiri shoko ane zvaanoreva isu kunzwisisa pamwe uye chaizvo ari kure. Asi chokwadi, ivo kukanganisa zvikuru hwedu uye kuchinja, uye isu vanomanikidzwa kuchinja. Murume anoziva sei kuchinjira kumamiriro ezvinhu, chero vaiva, uye kunyange vanhu vane majini abnormalities tiine nguva uye nzvimbo vachava irreplaceable.