Maitiro eNhaka yeZvirwere zveMajini
Zvirwere zvemajini zvinogona kunzwisiswa kuburikidza nesainzi yakaoma yemajini, inova kudzidza kuti hunhu nemamiriro ezvinhu zvinopfuudzwa sei kubva kune chimwe chizvarwa kuenda kune chinotevera. Kugara nhaka kwemajini kunotevera maitiro chaiwo, achikanganiswa nezvinhu zvakasiyana-siyana zvakaita serudzi rwejini rinobatanidzwa, nzvimbo yaro pamachromosome, uye kana hunhu hwacho hwakanyanya kana kuti hwakaderera. Chinyorwa chino chinotarisa maitiro ekutanga ekugara nhaka kwezvirwere zvemajini, chichipa ruzivo rwekuti zvirwere izvi zvinopararira sei mumhuri uye zvinokanganisa sei vanhu zvakasiyana.
Nhaka yeMendelian
Mapatani ekutanga enhaka yemajini akatsanangurwa kekutanga naGregor Mendel muzana remakore rechi19 kuburikidza nebasa rake nemiti yepizi. Nhaka yeMendelian inosanganisira mapatani akati wandei, kunyanya autosomal dominant, autosomal recessive, X-linked dominant, uye X-linked recessive.
Autosomal Dominant Nhaka
Mu autosomal dominant inheritance, kopi imwe chete yejini rakachinja, rinotorwa kubva kumubereki chero upi zvake, ndiyo yakakwana kukonzera chirwere ichi. Munhu ane chirwere ichi anowanzova neallele imwe yakajairika uye allele imwe yakachinja. Zvirwere zvinotevera maitiro aya zvinosanganisira chirwere chaHuntington neMarfan syndrome. Hunhu hwe autosomal dominant inheritance hunosanganisira:
1. Kutapurirana kweropa kwakamira: Dambudziko iri rinowanzoonekwa muzvizvarwa zvakawanda.
2. Kukanganiswa Kwakaenzana Kwevanhurume Nevakadzi: Vanhurume nevanhukadzi vane mukana wakaenzana wekubatwa nechirwere ichi.
3. Mikana ye50% pakubata pamuviri: Mwana wega wega wemubereki ane chirwere ichi ane mukana we50% wekugara nhaka chirwere ichi.
Autosomal Recessive Nhaka
Mu autosomal recessive inheritance, makopi maviri ejini rakachinja (rimwe kubva kumubereki mumwe nemumwe) anodiwa kuti munhu aratidze chirwere ichi. Vanhu vane allele imwe yakajairika neimwe yakachinja vanotakura chirwere ichi uye vanowanzova vasina zviratidzo. Zvirwere zvakaita se cystic fibrosis uye sickle cell anemia zvinowira muchikamu ichi. Zvinhu zvikuru zvinosanganisira:
1. Kutapurirana kwechirwere: Chirwere ichi chinowanzo pfuura zvizvarwa uye chinogona kuonekwa pakati pehama nehanzvadzi.
2. Kukanganiswa Kwakaenzana Kwevanhurume Nevakadzi: Vanhurume nevanhukadzi vane mukana wakaenzana wekubatwa nechirwere ichi.
3. Mikana ye25% pakubata pamuviri: Kana vabereki vese vari vaviri vane chirwere ichi, mwana wega wega ane mukana we25% wekubatwa nacho.
Nhaka Yakabatana neX
Kugara nhaka kunosanganisira kuchinja kwemajini ari pachromosome yeX. Jini rimwe chete rakachinja pane imwe yemachromosome eX rakakwana kukonzera chirwere ichi muvarume nevakadzi, kunyangwe kukanganisa kwacho kuchinyanya kuipa muvarume. Mienzaniso inosanganisira Rett syndrome nedzimwe mhando dzehypophosphatemic rickets. Hunhu hwacho ndehwekuti:
1. Hapana kutapurirana kwehutachiona kubva kumurume kuenda kumurume: Vanababa havagone kutapurira chirwere ichi kuvanakomana vavo (sezvo varume vachipa chromosome Y kuvana vavo).
2. Inonyanya Kukanganisa Vakadzi: Vakadzi vanowanzo kubatwa nekuti vane ma chromosome maviri eX saka mukana wekutakura gene rakachinja.
3. Kuoma Kwakanyanya muVarume: Varume, vane X chromosome imwe chete, vanogona kuratidza zviratidzo zvakanyanya kana vakagara nhaka yekuchinja uku.
Nhaka Yakabatana neX
MuX-linked recessive inheritance, makopi maviri emutation (imwe paX chromosome yega yega muvakadzi) anodiwa kuti vakadzi vabatwe, nepo kopi imwe chete yemutation inodiwa kuti varume (vane X chromosome imwe chete) vabatwe. Hemophilia neDuchenne muscular dystrophy mienzaniso yekare. Pfungwa dzinokosha dzinosanganisira:
1. Hapana kutapurirana kwehutachiona kubva kumurume kuenda kumurume: Vanhurume havagone kutapurira chirwere ichi kuvanakomana vavo.
2. Inonyanya Kukanganisa Varume: Varume vanowanzobatwa nechirwere ichi nekuda kwekuva neX chromosome imwe chete.
3. Madzimai Anotakura Chirwere: Vakadzi vane jini rimwe chete rakachinja, vane mukana we50% wekupa jini kuvanakomana vavo (avo vanozobatwa naro) uye mukana we50% wekupa jini kuvanasikana vavo (avo vanozove vatakuri).
Nhaka Isiri yeMendelian
Hadzisi dzese zvirwere zvemajini zvinotevedzera maitiro eMendelian. Kugara nhaka kusiri kweMendelian kunosanganisira nzira dzakasiyana-siyana dzakadai sekugara nhaka yemitochondrial, kugara nhaka yemultifactorial, uye kupinza majini.
Mitochondrial Nhaka
Kugara nhaka kweMitochondrial, kunozivikanwawo sekugara nhaka kweamai, kunosanganisira majini ari muDNA yemitochondrial, iyo inogarwa nhaka kubva kuna amai chete. Zvirwere zveMitochondrial zvinowanzo kukanganisa kugadzirwa kwesimba uye zvinogona kutungamira kuzvirwere zvakaita seLeber's hereditary optic neuropathy. Hunhu hunosanganisira:
1. Nhaka yeAmai: Varume nevakadzi vanogona kubatwa nechirwere ichi, asi vakadzi chete ndivo vanopfuudza DNA yemitochondrial.
2. Kuchinja-chinja kwezviratidzo: Kuoma kwezviratidzo kunogona kusiyana zvakanyanya pakati pevanhu, kunyangwe vari mumhuri imwe chete.
Nhaka yeZvinhu Zvakasiyana-siyana
Kugara nhaka kwezvinokonzera zvakawanda zvinoreva zvirwere zvinokonzerwa nekusanganiswa kwezvinhu zvemajini nezvinhu zvakatikomberedza. Mienzaniso inosanganisira chirwere chemwoyo, chirwere cheshuga, uye mhando dzakawanda dzekenza. Zvirwere izvi hazviteveri maitiro akareruka eMendelian uye zvinoratidza maitiro akaomarara ekugara nhaka akadai se:
1. Migumisiro yePolygenic: Majini akawanda anowedzera njodzi yekuva nechirwere ichi.
2. Zvinokanganisa nharaunda: Mararamiro akasarudzwa uye kusangana nevanhu munzvimbo inokonzeresa kuratidzwa kwechirwere ichi zvakanyanya.
3. Kuunganidzwa kwemhuri: Matambudziko aya anowanzo itika mumhuri asi haateveri maitiro ekugara nhaka akajeka anoonekwa nezvirwere zvemajini rimwe chete.
Kudhindwa kweGenomic
Kuiswa kwemajini kunosanganisira majini anoratidzwa nenzira yakatarwa nemubereki wekwaakabva. Mamwe majini "anoiswa" kana kuti anonyorwa nemakemikari kuti anoshanda zvichienderana nekuti anowanikwa kubva kuna amai kana baba. Matambudziko akadai sePrader-Willi syndrome uye Angelman syndrome anokonzerwa nekuiswa kwemajini zvisina kunaka. Zvinhu zvikuru zvinosanganisira:
1. Mhedzisiro yeChibereko cheMubereki: Kuonekwa kwechirwere ichi kunoenderana nekuti jini rakachinja rinobva kuna amai here kana kuti kuna baba.
2. Nzvimbo Dzemajini Dzakasiyana: Kudhindwa kunowanzo kanganisa nzvimbo dzakati dzemachromosomes.
mhedziso
Kunzwisisa maitiro ekugara nhaka kwezvirwere zvemajini kwakakosha pakupa mazano ezvemajini, kuongororwa kwenjodzi, uye kugadzirwa kwemishonga yakanangwa. Kunyange hazvo nhaka yeMendelian ichipa hwaro hwezvirwere zvakawanda zvemajini, zvakakosha kuziva kuomarara kunounzwa nenzira dzisiri dzeMendelian. Zvese zvinhu zvemajini nezvakatipoteredza zvinoita basa mukuratidzwa kwezvirwere zvemajini, zvichisimbisa kudiwa kwenzira dzakakwana dzekuongorora nekurapa. Sezvo tsvakiridzo yezvemajini ichifambira mberi, tambo yakaoma yemagadzirirwo enhaka iri kuramba ichibuda, ichipa nzwisiso itsva uye mhedzisiro iri nani kune avo vanobatwa nezvirwere zvemajini.
