Gene, ufuzo, chromosome: inkcazelo, isakhiwo, umsebenzi

"Gene", "gene", "chromosome" - amagama aqhelekileyo kuyo yonke schoolchild. Kodwa ingcamango yokuba lo mba ngobulungisa ngokubanzi njengoko ukuzinzisa kwi kumahlathi zengqo- kufuna ulwazi olukhethekileyo kunye nomnqweno ukuqonda zonke kuyo. Kwaye ke, ukuba ekhoyo kwinqanaba ukwazi, iyalahleka ngokukhawuleza phantsi ubunzima ntetho. Makhe zama ukuqonda nezo yemfuza kwifomu yenzululwazi kunye ezibandayo.

Yintoni isakhi?

Gene - kwisuntswana lincinci yolwazi noshowo kwaye zisebenza kwimfuza ngayo izinto eziphilayo. Okubalulekileyo ke intwana encinane DNA, equlethe ulwazi malunga ukulandelana acid acid ethile ukwakha protein okanye RNA functional (eya kwakhona kuhlanganiswa protein). I-gene umisela iimpawu ukuba ilifa wadlulisela kwinzala chain yokuzalwa. Ezinye iintlobo zezilwanyana-eyodwa enye, kukho transfer sofuzo, nto leyo enxulumene lokwanda ngohlobo lwazo, oko kuthiwa tye.

"Kwi kwamagxa" ngezakhi yimbopheleleko enkulu kuba ziya kubonakala njani na kwaye basebenze zonke iseli kunye nenyama xa iyonke ngayo. Ukuba silawule ubomi bethu ukususela ekudalweni wokukhulelwa kuwo umoya wokugqibela.

Inyathelo yenzululwazi lokuqala phambili kolu phando kwimfuza yenziwa seal yaseOstriya Gregor Mendel, owathi ngo-1866 wapapasha akuphawuleyo iziphumo ekudibaneni-ertyisi. izinto ilifa, leyo wasebenzisa ngokucacileyo wabonisa iimpawu yeepatheni transmission, ezifana nombala kunye nemilo ertyisi kunye neentyatyambo. Le indela baqulunqe imithetho Obumbe ukuqala zemfuza nje inzululwazi. Ilifa zofuzo kungenxa yokuba abazali umntwana wabo isiqingatha zofuzo zayo. Ngenxa yoko, iimpawu uMama noTata, ukuxuba ukwenza udibaniso entsha iimpawu sele ikhona. Ngethamsanqa, le iinketho ngaphezu izidalwa eziphilayo emhlabeni, kwaye akunakwenzeka ukufumana abantu ababini twatse ngokupheleleyo.

Mendel wabonisa ukuba izinto zofuzo bengengabo engumxube, kwaye idluliselwe ngohlobo iiyunithi obubobu (separate) ukusuka abazali kwinzala. Ezi yunithi ziboniswa lwemizekelo ngababini (alleles) ahlale ezahlukene ze idluliselwe kokuphumelela izizukulwane gametes inkunzi nemazi, nganye iqulethe enye iyunithi isibini ngasinye. Ngowe-1909, enye ingcali ngeentyatyambo Danish Johannsen ebizwa ngokuba ezi yunithi ngezakhi. Ngowe-1912, i zofuzo kwi-United States of America, Morgan wabonisa ukuba kwi zofuzo.

Ukususela ngoko, kwathatha ngaphezu kweminyaka engamashumi amahlanu, yaye izifundo ziye phambili umganyana kwe Mendel ukuba wayecinga. Okwangoku, izazinzulu ziye zahlala kuloo noluvo lokuba ulwazi olugcinwe kwi imfuza, imisela ukuba ukukhula, uphuhliso kunye umsebenzi eziphilayo. Kwaye mhlawumbi nokufa kwabo.

ngezigaba

kwezakhi zofuzo iqulethe ingcaciso kuphela malunga protein, kodwa acacise futhi ukuba ufunde nini kwaye njani, nemizi engenanto kuyimfuneko ukuba babelane ngolwazi malunga iiprothini ezahlukeneyo uvingce Yindibanisela iimolekyuli ulwazi.

Kukho iintlobo ezimbini zofuzo:

1. Zezakhiwo - kuba ziqulathe ulwazi malunga isakhiwo iiprothini okanye imixokelelwane RNA. Ulandelelwano nucleotide elivumelana acid.
2. zofuzo ezisebenzayo enoxanduva lwesakhiwo ngokuchanekileyo eziseleyo iinxenye DNA bokulandelelana synchronism, nokuyifunda.

Ukuza kuthi ga ngoku, izazinzulu bayakwazi ukuphendula umbuzo othi: zingaphi zofuzo le chromosome? Impendulo iya ikushiye, malunga neebhiliyoni ezintathu ngababini. Kwaye oku kuphela enye emashumi mabini anesithathu. Zofuzo iyunithi incinane kwesakhiwo, kodwa unako ukutshintsha ubomi bomntu.

kuqhu-

utshintsho ngengozi okanye ngabom ulandelelwano nucleotide ngaphakathi mngxilo DNA, ebizwa kuguquka. Siyaqondakala kuchaphazela isakhiwo kwiproteni, yaye sinokuwagqwetha ngokupheleleyo iimpawu zayo. Ngoko ke, baya iingxaki zasekuhlaleni kwihlabathi inguqulelo enjalo.

Bebodwa, la yemfuza isenokuba ebangela isifo, oko kukuthi ndiyibonakalalise, njengoko sisifo okanye iyabulala, singavumeli umzimba ukuphuhlisa zibe kwimeko iphila. Kodwa ke uninzi utshintsho sikhanya ukuya abantu. Cimo kunye duplications rhoqo lizimisele ngaphakathi DNA, kodwa musa kuchaphazela ikhondo lobomi lomntu ngamnye.

Ukucinywa - ilahleko kummandla chromosome equlethe ulwazi oluthile. Ngamanye amaxesha ezi nguqu eziyingenelo emzimbeni. Banceda ukuba uvikele ndlongo zangaphandle, ezifana human immunodeficiency virus neentsholongwane nesifo.

-Phindo - ukuphinda-kummandla chromosome, yaye ngenxa yoko ke uluhlu zofuzo leyo iqulethe, ikwabizwa kabini. Ngenxa uphindaphindo lolwazi, oko kuxhomekeke ekubeni namantshontsho ngaphantsi, ngoko baziqwebele kwiDNA kunye utshintshe umzimba ngokukhawuleza.

iipropati sofuzo

Umntu ngamnye linama DNA. Zofuzo - iyunithi asetyenziswayo nesakhiwo sayo. Kodwa ezi ndawo ezincinane kufuneka iipropati zabo ezizodwa evumela ukugcina uzinzo izinto eziphilayo:

1. Efundeka - ukukwazi mix yemfuza.
2. Uzinzo - ulondolozo ngesakhiwo neempawu.
3. Lability - ukukwazi ukutshintsha phantsi kweempembelelo iimeko, ukuqhelana-bume engentle.
4. allelism Multiple - ubukho phakathi DNA ye yemfuza leyo, ikhowudi neprothini efanayo lwesakhiwo ezahlukeneyo.
5. Allelic - kukho iindlela ezimbini sofuzo mnye.
6. Okukodwa - uphawu omnye = omnye gene into njengelifa.
7. Pleiotropy - ubuninzi iziphumo isakhi elinye.
8. Expressivity - okubonisa obubungqongo leyo ufakwe yi sofuzo.
9. Penetrance - amaza kweejini kwi sofuzo.
10. Yokukhulisa - isahlakalo eziphawulekayo Inombolo ikopi sofuzo DNA.

ufuzo

Zofuzo zesintu - na umbandela lonke ilifa, leyo kwisisele esintu. Loo nto inika isikhokelo ukwakhiwa umzimba, amalungu, utshintsho nokomzimba. Le nkcazelo yesibini yekota ibonisa isakhiwo lwengqiqo, kunokuba umsebenzi. Zofuzo zesintu - ingqokelela genetic material zibekelelwe iseti haploid zofuzo (23 ngababini) kwaye ezinxulumene uhlobo oluthile.

Isiseko ye zofuzo zinemoletyhule of deoxyribonucleic acid zaziwa ngokunjalo DNA. Zonke genomes ziqulathe iintlobo ubuncinane ezimbini lolwazi: ulwazi khowudi kwi isakhiwo iimolekyuli nomlomo (ebizwa ngokuba yi-RNA) kunye neprothini (olu lwazi eziqulathwe imfuza), kwakunye imiyalelo ezichaza ixesha kunye nendawo ozenzekelayo yale ngcaciso kuphuhliso ephilayo. Yemfuza ngokwabo babe yinxalenye encinane zofuzo, kodwa ngenxa yayo. Ingcaciso ebhalwe zofuzo - uhlobo guide ekuveliseni iiprothini, iibhloko zokwakha ezingundoqo emzimbeni wethu.

Noko ke, ukuba abalinganiswa epheleleyo zofuzo ngokwaneleyo kufakwe kuyo ulwazi malunga isakhiwo iiprothini. Ufuna ulwazi olungaphezulu malunga iziqalelo apparatus yemfuza, leyo ukuthatha inxaxheba kumsebenzi yemfuza elawula imbonakalo kumanqanaba ahlukeneyo ekhula kwaye kwiimeko ezahlukeneyo ebomini.

Kodwa oku Akwanelanga ukuba ukuzimisela epheleleyo zofuzo. Kuba kuso kukwakho izinto negalelo layo self-yokuzala (phindana), compact package iDNA ngumongo, kwaye nabanye kodwa iindawo ezingaqhelekanga, maxa wambi ebizwa ngokuba 'lokuzingca "(oko kukuthi, ukuba kuphela abaqeshwa ngokwazo). Kuba zonke ezi zizathu, ngalo mzuzu xa kufikwa kwigenome, ngokuqhelekileyo wayecinga zizo zonke DNA eboniswe kwi zofuzo lwe eziba iseli ye uhlobo ezithile eziphilayo, kuquka, Kakade ke, kanye zofuzo.

Ubukhulu kunye nesakhiwo zofuzo

Kusengqiqweni ukucinga ukuba gene, iigene, chromosome yahlukile xa abameli ezahlukeneyo eziphilayo emhlabeni. Ezipilisi kuba ezincinane ezingenakuphela elikhulu kwaye ziqulathe i ezigidi izibini yemfuza. Ubume zofuzo nayo iya kuxhomekeka uhlolisisa ukuba kabani ufuzo.

Xa umlinganiselo phakathi ubungakanani zofuzo kunye nenani yemfuza yayo ilungu iiklasi ezimbini zingahlukaniswa:

1. genomes compact ezingekho iziseko ngaphezu kwezigidi ezilishumi. Zinelungelo iseti yemfuza ukuba zingqamene ngamandla ngokobukhulu. Uphawu kakhulu iintsholongwane kunye prokaryotes.
2. genomes olubanzi lubandakanya abangaphezu kwezigidi 100 ezibini angamatshijolo, akanakuba nolwalamano phakathi ubude bawo kunye nenani yemfuza. Okunye kuxhaphakile eukaryotes. Uninzi landelanisa nucleotide kule klasi musa encoder iiproteni okanye RNA.

Uphononongo lubonise ukuba kukho malunga 28,000 zofuzo zofuzo zesintu. edyokhweni zisasazwe kuzo zonke zofuzo, kodwa ke ixabiso eli candelo kuhlala imfihlelo zesayensi.

chromosome

Zofuzo - yinto indlela diphu umbandela yemfuza. Bona afumaneka kwinucleus iiseli eukaryotic, kwaye iqulathe ngamnye elinye DNA elide kakhulu. Baya lula kubonakala microscope ekukhanyeni kwinkqubo ngokucandeka. Karyotype kuthiwa iseti epheleleyo zofuzo, nto leyo ngqo kuhlobo ngalunye. izinto olugunyazisiweyo ngabo lo centromere, telomere kunye ukuphindaphindeka kuyo.

Utshintsho zofuzo ngexesha division cell

Gene, ufuzo, chromosome - a iiyunithi circuit transmission data serial, nganye apho ibandakanya yangaphambili ilandelayo. Kodwa ezilandela iinguqu ezithile nekwakuyinto eyayisenzeka ebomini esiseleni. Umzekelo, kwi interphase (phakathi kwamacandelo) kwi zofuzo isiqalo zilungiswe lathamba, zithatha isithuba esininzi.

Xa iseli elungiselela mitosis (m. E. To inkqubo ukwahlukana ezimbini), lo chromatin lushwankathela kwaye ijijekileyo kungena zofuzo, kwaye ngoku iba ebonakalayo neemicroscope ekukhanyeni. Xa metaphase zofuzo zifana iintonga ilahlwe kufuphi enye kwenye yaye eqhagamshelwe constriction lokuqala okanye centromere. Kuyinto unoxanduva lokuqulunqa intonga yokusonta mitotic, xa kukho iqela zofuzo kukulayinisha up. Kuxhomekeka indawo centromere, kukho ukuhlelwa zofuzo:

1. Acrocentric - kulo mzekelo, lo centromere libekwe iphambene ngokumalunga embindini chromosome.
2. Submetacentric xa amagxa (oko kukuthi, amaziko phambi nasemva kokuba centromere) zobude ukungalingani.
3. Metacentric ukuba centromere okuphosela chromosome kanye embindini.

Le ngokuhlelwa ye zofuzo yaphakanyiswa ngo-1912 kwaye isetyenziswa zebhayoloji de namhlanje.

okungahambi chromosome

Njengoko kunye nezinye izinto morphological of a esiphilayo, zofuzo nabo kwenzeka utshintsho lobume ezichaphazela umsebenzi wabo:

1. Aneuploidy. Olu tshintsho inani lilonke zofuzo kwi karyotype ngokongeza okanye ukususa omnye wabo. Imiphumo enjalo yemfuza inokuba linokugqiba kwimveku engekazalwa, kodwa inokubangela kwasekuzalweni.
2. Polyploidy. Ebonakalisa kwandiswa inani zofuzo, isiqingatha ezininzi inani labo. Eyona amaninzi zifumaneka izityalo, ezifana nobulembu nokungunda.
3. aberrations Chromosomal, okanye ngokutsha, - njengotshintsho isakhiwo chromosome phantsi kwempembelelo ngeemeko zokusingqongileyo.

genetics

Genetics - isayensi ufunda imithetho yofuzo kunye ukwahluka, kwakunye nokuqinisekisa neendlela zabo omzalayo. Ngokungafaniyo isayensi ezininzi zebhayoloji ngayo ukususela ekusekweni kwayo, uye wafuna ukuba ube isayensi ngqo. yonke imbali yemfuza - libali kwendalo kunye nokusetyenziswa iindlela ngakumbi yechaneke ngaphezulu kunye neendlela. Iingcamango kunye neendlela imfuza zidlala indima ebalulekileyo amayeza, ezolimo, ubunjineli yemfuza, ishishini eziphilayo.

Esinazo - ukukwazi komzimba ukuze ibonelele kuthotho ukuqhubeka dialogue lweempawu morphological, kwemichiza kunye nokomzimba kunye neempawu. Kule nkqubo welifa nendima enkulu iintlobo-ngqo, iqela (uhlanga, abemi) kunye neempawu intsapho isakhiwo kunye nokusebenza eziphilayo kunye ontogeny yabo (uphuhliso ngamnye). Hayi kuphela ilifa iimpawu ezithile zokusebenza kwaye zisebenza omzimba (iimpawu zobuso, ezinye iinkalo iinkqubo pathways, ubuntu et al.), Kodwa kwakhona iimpawu physicochemical ngesakhiwo kunye nokusebenza iseli esisiseko biopolymers. Ukwahluka - iintlobo ze iimpawu phakathi kweentlobo ezithile, kwakunye impahla kwinzala lokuthenga ezahlukileyo kwezo fom lwabazali. Ukwahluka ne ufuzo zezona iimpawu ezimbini engenakususwa eziphilayo.

Down engqondweni

syndrome Down kaThixo - isifo yemfuza apho karyotype ali zofuzo 47 kwi zabantu endaweni yesiqhelo 46. Olu hlobo aneuploidy, njengoko kuchaziwe apha ngasentla. Xa isibini amabini ananye zofuzo kukho ezongezelelweyo okusenza ingcaciso engaphezulu yemfuza kwigenome zabantu.

igama layo syndrome yathiywa emva kokuba ugqirha, Don Ezantsi, ngubani yafunyanwa kwaye wayichaza kuncwadi njengendlela ugula ngengqondo 1866. Kodwa ufuzo yafunyanwa phantse elikhulu kwiminyaka kamva.

lwezifo

Okwangoku, esi karyotype zofuzo 47 ebantwini kwenzeka kanye ngendlela kuzalwa amawaka (ngaphambili manani yayahlukile). Oku kwenziwe imibulelo ukuba uxilongo ekuqaleni kwale ngezifo. Esi sifo akuxhomekekanga kuhlanga, imvelaphi yobuhlanga okanye unina ngesimo sakhe ekuhlaleni. Waphenjelelwa ubudala. Amathuba okufumana umntwana kunye Down syndrome nokunyuka emva kweminyaka emashumi mathathu anantlanu, waza emva mane inani labantwana okunempilo ukuze izigulane sele ilingana no-20 ukuya 1. Ubudala uyise iminyaka emashumi mane phezu wandisa kwakhona amathuba okufumana umntwana kunye aneuploidy.

Ifomu of Down syndrome

Uhlobo zixhaphakileyo - ukuvela kukho chromosome engaphezulu ku pair ezingamashumi amabini ananye indlela non-njengelifa. Oku kungenxa yokuba ngexesha sibini meiosis akathanga ukungavumelani kwi edibanise division. Amahlanu ekhulwini amatyala baphawula mosaicism (chromosome extra iqulethe zonke iiseli zomzimba). Ndawonye zenza up alithoba anesihlanu ekhulwini inani elipheleleyo labantu nale siphene bekhubazekile. Eziseleyo amahlanu ekhulwini onaso ibangelwa trisomy njengelifa chromosome yamashumi amabini ananye. Noko ke, ukuzalwa nabantwana ababini kunye sifo kwintsapho enye kancinci kuphela.

ikliniki

Umntu Down syndrome abonakala yi yeempawu zangaphandle, apha ezinye zazo:

- atshabalalisa ubuso;
- yokakayi asisifutshane (umlinganiselo ezinqamlezayo enkulu ngaphezu longitudinal);
- isikhumba ngomphetho entanyeni;
- ngomphetho yesikhumba esigquma kwikona engaphakathi amehlo;
- ukuhamba ngokugqithisileyo amalungu;
- yehle kwezihlunu;
- flattening ze emva kwentloko;
- imilenze emifutshane neminwe;
- uphuhliso seengxangxasi kubantwana abadala ngaphezu kweminyaka esibhozo;
- okungahambi amazinyo nenkalakahla;
- yesifo senhliziyo;
- kusenokubakho unesathuthwane syndrome;
- wegazi.

Kodwa ngokucacileyo isifo olusekelwe kuphela ekubonakalisweni zangaphandle, Kakade ke, akunakwenzeka. Kuyimfuneko ukuba karyotyping.

isiphelo

Gene, iigene, chromosome - kubonakala ukuba nje igama nentsingiselo lakhe sikuqonda ngokuhlangeneyo ukude kakhulu. Kodwa enyanisweni, zisichaphazela ngamandla ubomi bethu kwaye ukutshintsha, kwaye kunyanzeleke ukuba utshintshe. Lo ndoda akayaz ukuba silungelelanise iimeko, nokuba babefudula benjani, nkqu nabantu abanala makhwiniba genetic kusoloko kukho ixesha kunye nendawo apho baya kuba ezinye endaweni yazo.