Isici se-autosomal esiqine. Isici se-autosomal esiphundu

Isibalo sezifo ezihlukahlukene ezingakwazi ukunciphisa kakhulu ukuphila komuntu ngisho nokuholela ekufeni zikhula njalo. Kubalulekile ukuqonda iqiniso elibalulekile: ezinye zezinkinga eziphula imisebenzi yomzimba azitholakali, kodwa, njengoba zisho, zisekelwe ezakhiweni zofuzo. Kungenxa yefa lezimpawu ze-autosomal ezidluliselwa ezizukulwaneni ngezizukulwane.

Yini okufanele iqondwe njengesici se-autosomal

Ukujulisa ngokubaluleka kwalesi sigaba, kubalulekile kuqala kokunaka impahla enjalo yimuphi umuntu ophila njengenzalo. Ezimweni eziningi, izingane zifana nabazali bazo, kodwa empeleni, phakathi kwabameleli bomndeni ofanayo, eqinisweni, zikhona njalo umehluko.

Ngamanye amazwi, yilowo nalowo unezici zakhe siqu, kodwa empeleni ziyingxenye yefa lofuzo. Ngakho-ke, isibonakaliso se-autosomal asiyona nje ifa lezici zofuzo zabazali.

Ukudluliselwa kwezifo

Ngaphandle kwezici ezithile ezithile, umuntu angathola izifo ezithile ezivela kubayise nonina. Leli qiniso libangelwa ithonya lokuguqulwa kwezakhi zofuzo ezitholakala endaweni ye-autosomes. Kulokhu, izibonakaliso ezinjalo zingahlukaniswa ezindaweni ezimbili eziyinhloko: eziphezulu futhi eziphambene nalokhu. Bobabili kanye nabanye banomthelela omkhulu ekwakheni ifa lomuntu othile.

Isici esiphezulu se-Autosomal

Uhlobo ngalunye lwefa lunezici zalo siqu. Uma sicabanga nge-autosomal eyinhloko, kufanele kuqashelwe ukuthi kulokhu, ukuze uthole lesi sifo ngefa, kwanele ukudlulisa konke okushiwo yibazali. Lesi sibonakaliso sefa singabonakala ngokufanayo kokubili amadoda nabesifazane. Eqinisweni, i-autosomal ifa eliyinhloko lingachazwa ngokuthi ukudluliselwa komkhuba olawulwa yi-allele ephezulu yesigameko se-autosomal. Ngalolu hlobo lwefa, enye i-mutant allele eyakhelwe endaweni ye-autosome izokwanela ukubonakaliswa kwalesi sifo.

Izindaba ezinhle ukuthi izifo eziningi ezisakazwa ngale ndlela azibangeli umonakalo omkhulu empilweni, futhi azikwenzi umonakalo omkhulu ekusebenzeni komuntu. Uma siqhathanisa izinga lesithonya ngephesenti yezifo, khona-ke izibonakaliso eziqhamukayo zingase ziholele kunoma yiziphi iziphambano kunokuba zithinte kakhulu. Uma kukhona ukuguquka okunjalo komunye wabashade, ngokugcwele impilo yesibili, ingozi yokudluliswa kwesifo i-50%. Ngenxa yalesi sizathu, isibonakaliso esiphezulu se-autosomal, esibonakaliswe ngesimo senoma yikuphi ukuguqulwa komzimba, singadluliselwa kusuka esizukulwaneni kuya esizukulwaneni, ngakho-ke, sinomlingiswa womndeni. Ngokungafani ne-autosomal ngokweqile, lezi zimpawu zibonakala kuma-heterozygotes ane-mutant eyodwa ne-allele ejwayelekile kuma-chromosomes angama-homologous.

Izifo e-autosomal ifa elikhulu

Ngalolu hlobo lokudluliselwa kwezici ezifuywayo zokubonakaliswa kwesifo esizukulwaneni esilandelayo, umshuwalense we-heterozygous mutation ukwanele. Kuyathakazelisa ukuthi isibonakaliso esiphezulu se-autosomal sisho ukuthi izifo ezifanayo zikhona kokubili amantombazane nabafana.

Uma lesi sifo esivela kulolu hlobo lokudlulisa ingane ekhona emntwaneni, kuyilapho bobabili abazali bephilile, lokhu kusho ukuguquka okusha emangqamuzaneni okuzala omama noma ubaba. Kubalulekile ukuqonda ukuthi emndenini owodwa umthelela wegeni elibusayo esimweni sezingane kungahluka. Lokhu kusho ukuthi isithombe somtholampilo kanye nokuqina kwezifo ngeke kube okufanayo.

Izibonelo zezifo

Isibonakaliso se-autosomal of the dominant type sibonakala ngokucacile ngesifo esifana ne-Marfan syndrome. Ukuxilongwa okunjalo kusho ukuthi izicubu ezihlangene zithinteka emzimbeni womuntu. Ezigulini eziphethwe i-Marfan syndrome, ngokuvamile ziba iminwe emincane encane, futhi ubude bezitho azihambisani. Abantu abanjalo bavame ukuthuthukisa ama-valve e-aortic and cardiac.

Esinye isifo esiwufa, esinqunywe ubukhona bezimpawu ezivelele zefa, i-brachidactyly, i-short-cut. Lesi isibonakaliso esingavamile okwenzeka komunye wabazali. Ukubonakaliswa kwalesi sifo kubonakale kakade okokuqala ngemuva kokuzalwa ngenxa yezinguquko ezingavamile emiphalweni yeminwe nezinzwane.

Izithulu zokuzizwa ziyisibonakaliso sokuzimela esingase sibonakale sibusa.

I-Amyotrophic lateral sclerosis (i-ALS, noma isifo sikaCharcot) nayo ingumphumela wefa elizimele le-autosomal futhi liyiqembu lezifo ze-neuronal. Lesi sifo singachazwa ngokuthi isifo esibulalayo, esiphuthumayo, se-neurodeergenerative esabangelwa ukuwohloka kwamaseli wesistimu ye-central central - ama-neurons. Umsebenzi oyinhloko wale maseli ulondoloza ithoni ye-muscle nokuhlinzeka ngemoto.

Isici esiphezulu se-Autosomal: izici

Lolu hlobo lwefa linezici ezimbalwa eziyinhloko:

• Akumele kuthinte isimo sezingane, noma ngabe kunezinkinga eziningi zezifo ezithinta izifo ezifuywayo, ngoba izibonakaliso eziphambene nazo aziveli kuzo zonke izizukulwane (ifa ngokwemvelo, ngokungafani nezici ezivelele);
• Ijethi ye-mutant ephindaphindiwe (a) ibonakala ngokubonakalayo kuphela uma i-homozygous state (aa);
• Isifo se-Hereditary sibonakala ngokufanayo ngokufanayo phakathi kokubili besifazane nabesilisa;
• Umkhuba wokuthi ingane ezalwe iyogula igxile kakhulu emishadweni ehlobene;
• Abazali abanobubele benomntwana abanesifo esibonakalayo bangaba yizinsimbi ze-heterozygous zegenesis mutant.

Kumele kuqashelwe ukuthi phakathi kwayo yonke ifa lokuphila ngokweqile kwefa lokuzimela kwezimpawu ezivamile kakhulu. Izifo ezingabonakala njengomphumela walesi sifo zihlanganisa iqembu elikhulu le-fermentopathies eliholela enkingeni yegazi, izifo zegazi (i-homeostasis kufaka), izinso, isistimu yomzimba, njll.

Izibonelo zezifo ezithathelwanayo ngokuzenzakalelayo

• Leli qembu lezimpawu lingabhekwa yisifo sikaGrke (glycogenosis). Ukubonakaliswa kwalesi sifo sofuzo kungenxa yokuntuleka kwe-enzyme-glucose-6-photosatase, okuholela ekuwohlokeni okuphawulekayo ekwenzeni isibindi ukuzala i-glucose. Ukuphulwa kwenqubo enjalo ebalulekile kuholela ekungeneni kwe-hypoglycemia.
• Lesi sifo sesiraphu se-maple sinesibonakaliso sokuzimela, esingachazwa ngokuthi siyinto ephindaphindiwe. Lesi sifo sinenye igama - i-leucinosis. Ukuxilongwa okunjalo kusho ukuphazamiseka kwamagciwane okuwumphumela wokungasebenzi kahle kwe-branino-chain amino acid. Lesi sifo singabanjelwa kuma-acidemias ephilayo.
• Isifo se-Thea-Sachs, esinegama elinjalo njengokusweleka kwe-amavrotic idiocy ne-hexosaminidase. Lesi sifo i-autosomal ye-genetic ephindaphindiwe futhi iholela ekudakaleni okuqhubekayo kwamakhono omzimba nengqondo yengane.
• Kumele uqaphele ukuthi, ngokungafani nesifo esinjengezithulu, isibonakaliso sokuzibonakalisa sobumpumputhe bombala siphutha ngokweqile, kodwa singachazwa ngokuthi "sihlobene nocansi". Ukuphulwa kombala ngombono kungakapheli futhi kuphelele. Okuvame kakhulu ukubuka okungaqondakali kokubomvu. Kumele uqaphele ukuthi kwezinye izimo, umbono ophazamisayo wombala othize uhlawulelwa ngokuhlukaniswa kakhudlwana kweminye imibala.

• I-Phenylketonuria iyi-autosomal traction ephawulekayo ekhombisa isifo somzimba esifanayo. Ukuphulwa okunjalo kubangelwa ukuntuleka kwe-phenylalanine enzyme.

Kusho ukuthini izifo ezixhunyaniswa nobulili

Izifo zaleli qembu zibangelwa ukuthi umuntu une-X chromosome, nabesifazane ababili. Ngakho-ke, ummeli wesilisa, ozuze ifa lesifo se-pathological, u-hemizygotic, futhi owesifazane u-heterozygous. Izimpawu ze-Hereditary, ezithunyelwa ngohlobo lwe-X oluxhunyiwe, zingenzeka ngamathuba ahlukene kubameleli bobulili bobabili.

Uma sicabangela i- X ehlanganiswe ifa elihlobene nalesi sifo, kufanele kuqaphele ukuthi amacala anjalo avamile kakhulu kwabesifazane. Lokhu kubangelwa ithuba lokukhula lokuthola i-allele pathological komunye wabazali. Ngokuqondene namadoda, bayakwazi ukuthola ifa lohlobo lolu hlobo kuphela kumama. Ngaphezu kwalokho, emgqeni wesilisa, i-autosomal trait ehambisana ne-X chromosome idluliselwa kuwo wonke amadodakazi, kuyilapho amadodana engabonakali lesi sifo, ngoba ayitholi i-chromosome kayise.

Uma unaka uphawu lwe-autosomal oluxubile oluxhunyaniswe ne-X, kuphawula ukuthi izifo ezinjalo zikhula ngokuyinhloko kumadoda we-hemizygotic. Ngako-ke, abesifazane basoloko behlala beba heterozygous futhi, ngenxa yalokho, banempilo kakhulu. Izici ezihlobene ne-X zihlanganisa nezifo ezifana ne- Duchenne-Becker i-dystrophy muscular, i- hemophilia, i-Hunter syndrome, nabanye.

Ngokuqondene ne-Y ehlobene nefa, lezi zimpawu zibangelwa ukuba khona kwe-Y-chromosome kuphela kumadoda. Isenzo sofuzo olunjalo singadluliselwa kuphela kusuka kubaba kuya endodaneni ngezizukulwane eziningi.

Izici ze-mitochondrial indlela yefa

Loluhlobo lwefa luyabonakala phakathi kwabanye ngokuthi ukuhanjiswa kwezici kwenzeka nge-mitochondria eplasma yeliqanda leqanda. Kulokhu, i-chromosome yendandatho isendaweni ngayinye ye-mitochondria, futhi kukhona cishe ama-25 000 kuwo. Ama-mutations aguqukayo ngokwemvelo e-mitochondria abonakala uma kune-ophthalmoplegia eqhubekayo, ama-myopathies e-mitochondrial kanye ne- optic nerve atrophy Leberath. Izifo eziwumphumela walesi sici zingadluliselwa kusuka kumama kaningi kuya kokubili amadodakazi namadodana.

Ngokuvamile, izimpawu zombili zokuxilonga ngezimoto kanye nezinye izinhlobo zokushintshashintsha kwemvelo zingaba nomthelela omkhulu esimweni somzimba sezizukulwane eziningana futhi imbangela yezifo eziningi ezibi kakhulu.