Ngokuguqula imizila abantu. ukuguquka Chromosomal abantu

abantu fuzo imele utshintsho kwenzeka iseli kwinqanaba DNA. Baya kuba kweentlobo ezahlukeneyo. Ngokuguqula imizila abantu kunokuba abe ngoondilele. Kulo mzekelo, kukho nye endaweni nucleoid. Utshintsho kunokuba yingozi. Bona luphawulwa isiphumo olukhulu phenotypic. Kwakhona abantu guquko kunokuba luncedo. Kulo mzekelo, utshintsho kuba sisiphumo esincinane phenotypic. Okulandelayo, makhe siqwalasele ngokweenkcukacha indlela ukuguquka kwabantu. Imizekelo utshintsho ziya kunikwa kweli nqaku.

ngezigaba

Chonga iintlobo ezahlukeneyo izakhi. Ezinye iindidi na, ke, ukuhlelwa yayo. Ngokukodwa, kukho la yemfuza zilandelayo:

• Somatic.
• Chromosome.
• Cytoplasmic.
• ukuguquka lofuzo ebantwini kunye nezinye iintlobo.

Utshintsho olwenzekayo phantsi kwempembelelo imiba eyahlukeneyo. Enye esicace olo tshintsho ingqalelo eChernobyl. Kwezakhi abantu emva kwentlekele yaqala kubonakala kwangoko. Noko ke, ekuhambeni kwexesha baba ngakumbi ucaca ngakumbi.

chromosomal kwezakhi Human

Ezi nguqu luphawulwa ukungaqheleki zezakhiwo. Kuyasa chromosome zenzeke. Bona sikhatshwe rearrangements ezahlukeneyo kubume. Kutheni kukho ukuguquka zabantu? Isizathu kukuba kwi izinto zangaphandle;

• Physical. Ezi ziquka gamma ze-X-reyi, ukungakhuseleki yelanga, lobushushu (phezulu / ezantsi), intsimi magnetic, uxinzelelo, njalo-njalo.
• Chemical. Oku kuquka alkoholi, cytostatics, iityuwa heavy metal, phenols kunye nezinye kusitsha.
• Eziphilayo. Ezi ziquka kwiintsholongwane.

ngokutsha kulogo

Ngokuguqula imizila abantu kule meko kuvela phantsi kweemeko eziqhelekileyo. Noko ke, olo tshintsho zifumaneka kwindalo zinqabile kakhulu: iikopi ezizigidi 1 isakhi ethile amatyala 1-100. Scientist JBS Haldane ebalwa okuba avareji hlengiso ezizenzekelayo. Yaba isizukulwana 5 * 10-5. Inkqubo yophuhliso okuzenzekelayo kuxhomekeke kwizinto yangaphandle nangaphakathi - mutational uxinzelelo ephakathi.

feature

ukuguquka Chromosomal kaninzi zihlelwa eziyingozi. Ezimbi ephuhlisa ngenxa reorganizations, ngokufuthi akuvumelani ebomini. Njengoko iimpawu ezisisiseko chromosomal kwezo bethanda hlengiso ngengozi. Ngenxa yabo wambumba ezininzi "angalawuliyo" ezintsha. Ezi nguqu zitshintsha zofuzo, awabe izinto kulo lonke kwegenome ngengozi. Ixabiso yawo encomekayo kumiselwa inkqubo yokhetho.

ukuguquka Chromosomal: yokuhlela

Kukho ezintathu iindlela zotshintsho ezinjalo. Ngokukodwa, ISO ekwanti, obufanelekileyo zofuzo intrachromosomal. (Aberatsiyami) Last luphawulwa ezingaqhelekanga. Bona ezichongiweyo kwi-sikhokelo a chromosome eyodwa. Olu tshintsho qela ziquka:

• Cimo. Ezi ukuguquka zimele ilahleko lwangaphakathi nokuba ekupheleni inxalenye chromosome. Ngokutsha olu hlobo kungabangela ezininzi mgaqweni ngexesha kuphuhliso osandul (umzekelo, uhlobo isiphako intliziyo naso).
• Inversion. Olu tshintsho kubandakanya ukujikeleza a chromosome Isiqwenga ukuya degrees 180. kwaye ebeka kwisiza yangaphambili. Kulo mzekelo, ukulandelelana eziqalelo zolwakhiwo ezaphukileyo, kodwa oku alichaphazeli phenotype, ukuba akukho zinto ezongezelelweyo.
• Duplications. Bamele phindo chromosome ukuqhekeka. Loo ukutenxa kumgaqo Uxhokonxwa ukuguquka heritable zabantu.

ulungiso Interchromosomal (translocations) zaba phakathi imiba izabelo apho zofuzo ezifanayo. Ezi nguqu yahlulwe:

• Robertsonian. Luqokelelane endaweni zofuzo ezimbini odiyo metacentric acrocentric.
• Nonreciprocal. Kulo mzekelo, inxenye nokususwa chromosome omnye komnye.
• Reciprocal. Phantsi kwezi rearrangements zaba phakathi izinto ezimbini.

kuvela Izohromosomnye izakhi ngenxa ukuyilwa iikopi chromosomal lwamanxuwa esibuko ezinye ezimbini, leyo ziqulathe iiseti sofuzo efanayo. Loo ukutenxa kumgaqo ekubhekiselelwe compound phambili ngenxa yokuba emnqamlezweni chromatid yokuzahlula zisenzeka yi centromere.

Iindidi utshintsho

Kukho zokusebenza kunye lwamanani zofuzo chromosomal. Nevuthisayo ngexesha ke, yahlulwe aneuploidy (ukuvela (trisomy) okanye ilahleko (monosomy) izinto ezongezelelweyo) kunye polyploidy (ukuba ulwando oluphindwe kwamanani zabo). litsha lokwakheka thaca inversions, cimo, translocations, afakwa kwifayili, kwakunye isochromosome nemisesane phambili.

Ukusebenzisana iindidi ezahlukeneyo rearrangements

ukuguquka lofuzo utshintsho ezahlukeneyo kwinani lweziqalelo zezakhiwo. Zofuzo abo nezitenxo kwi kwisakhiwo zofuzo. ukuguquka Chromosomal zichaphazela ubume zofuzo ngokwabo. Ezokuqala nezokugqibela, bona, babe Ukuhlelwa okufanayo polyploidy kunye aneuploidy. Ngokutsha utshintsho phakathi kwabo i kwazo Robertsonian. Ezi ukuguquka adityaniswa kwicala enjalo, kwaye ingqiqo amayeza njenge "ukungaqheleki chromosomal". Oku kuquka:

• ngezifo Somatic. Ezi ziquka ngezifo radiation, umzekelo.
• izifo intrauterine. Kusenokuba izisu zidityaniswe, kwezisu.
• izifo Chromosomal. Ezi ziquka Down syndrome, kunye nabanye.

Okwangoku, malunga nekhulu okungahambi ezaziwayo. Bonke bephela, waza ezichazwe. Njengoko syndromes kuboniswe malunga 300 iifom.

Iimpawu ukungaphili bekhubazekile

izakhi zofuzo ke zandlalwe kakuhle ngokubanzi. Olu didi luphawulwa iziphene ezininzi kuphuhliso. Senziwe ngenxa ukunyhashwa tshintsho okubonakalayo DNA. Amanxeba zenzeka ngexesha kwezichumiso, ekukhuleni kwengqondo gamete, kumanqanaba okuqala kokwahlulwa eqandeni. Ukusilela kungenzeka naxa ukuhlanganisa ulwazi iiseli uphilile lwabazali. Le nkqubo abanakukwazi ukulawulwa namhlanje yaye nokuyiqonda.

Neziphumo zotshintsho

Iingxaki chromosomal kuvame ibe ntle kakhulu umntu. Ngokufuthi Baqumbisa:

• Ngowe-70% - isisu kulogo.
• Malformations.
• Kwi 7.2% - ifile.
• Ukuqulunqwa yamathumba.

Ngokuchasene nentsukaphi inqanaba chromosomal ukungaqheleki nezilonda kumalungu okubangelwa yimiba eyahlukeneyo: uhlobo mgaqweni, ngokugqithisileyo okanye ayanelanga izinto ngendlela chromosome ngamnye, iimeko zokusingqongileyo, lo kweejini yento ephilayo.

amaqela ezimbi

Yonke isifo chromosomal zahlulwe zibe ziindidi ezimbini. Eyokuqala i kukwaphula kwavusa linani lweziqalelo. Ezi ezimbi kwenza uninzi izifo chromosomal. Ngaphandle trisomies, monosomy kunye nezinye iintlobo polysomes kweli qela ziquka tetraploidy kwaye triploidy (ekufeni kwabo kwenzeka mhlawumbi esizalweni okanye iiyure ezimbalwa zokuqala emva kokuzalwa). Amaninzi kubonakele Down syndrome. Oku kusekelwe abaneziphene. Down syndrome ithiywe emva kokuba igama udokotela, ngubani wayichaza ngo-1886. Okwangoku, esi sifo yeyona kufundwa kakhulu kuzo zonke ukungaqheleki chromosomal. Ukungaqheleki kwenzeka malunga omnye 700. Iqela lesibini kuquka izifo ezibangelwa utshintsho kwisakhiwo zofuzo. Imiqondiso zezi ezimbi ziquka:

• abazizidalwa ngokukhula.
• ukukhubazeka engqondweni.
• impumlo ubungqukuva.
• kokwehla amehlo Deep.
• iziphene Heart (bekhubazekile) kunye nabanye.

Ezinye izifo ezibangwa inguqu kwinani zofuzo ngesondo. Izigulane ezinjalo kwezakhi nanzalo. Ukuza kuthi ga ngoku, akukho unyango ephuhliswe ngokucacileyo etiological izifo ezinjalo. Nangona kunjalo, esi sifo ingathintelwa ngendlela kwesifo siswini.

Indima ekudalweni nasekusungulweni

Ngokuchasene imvelaphi utshintsho iqapheleka kwiimeko kohlo- ngaphambili yingozi kunokuba luncedo. Ngenxa hlengahlengiso zithathwa yokukhetha eziphathekayo. Ukuba uguquko kakubi "cwaka" iziqwenga DNA okanye kuphakamisa kufakwe elinye Isiqwenga ikhowudi kuyahambisana, njengoko umthetho, akukho ukuzibonakalisa nangayiphi na indlela kule phenotype. Noko ke, olo hlengahlengiso kungabonwa. Ukulungiselela le njongo, iindlela analysis sofuzo. Ngenxa yokuba utshintsho zenzeka ngenxa yokuba sesichengeni izinto zendalo, ngoko, sigqibe ukuba iimpawu eziphambili kokusingqongileyo kuhlala ingatshintshanga, kubonakala ukuba ukuguqulwa kuvela malunga qho njalo. Oku kunokusetyenziswa ekufundeni phylogeny - uhlalutyo nomini kunye imvelaphi zohlaza ezahlukeneyo, kuquka umntu. Ngokunxulumene nale ndlela entsha "zemfuza cwaka" yokunikeza ukuba abaphandi njenge "iwashi eziphilayo." Le thiyori nayo isekelwe kwinto yokuba uninzi utshintsho cala. izinga sokuzuza isakhi ethile ibuthathaka okanye esizimeleyo ngokupheleleyo yempembelelo ngokukhethwa zendalo. Ngenxa yokuba i-guquko uba rhoqo kwithuba elide. Noko ke, ngokuba yemfuza ezahlukeneyo ngamandla ngabanikazi.

Ekuphetheni

Ufundo indlela ingenzeka, uphuhliso ngakumbi rearrangements kwi deoxyribonucleic acid ayo, nto leyo atshintshelwe inzala ngokusebenzisa umgca koomama, kwaye i-Y-zofuzo, sidlule kuyise, lisetyenziswa namhlanje ngokwaneleyo eziphilayo zazivelela. Eqokelelweyo, zihlalutywe kunye nezinto systematized, iziphumo zophando zisetyenziswa izifundo imvelaphi beentlanga ezahlukahlukeneyo kunye neentlanga. Okubaluleke ezithile ulwazi malunga kuvuselelwa nokusekwa yebhayoloji kunye nophuhliso loluntu.