Genetics

Mageneti ndiko kudzidza kuberekwa, maitiro emubereki kupfuudza mamwe majeni kuvana vavo. Chitarisiko chemunhu - kureba, vhudzi rebvudzi, ruvara rweganda, uye ruvara rwemaziso - zvinotariswa nemajini. Humwe hunhu hunokanganiswa nenhaka ndeiyi:

• Mukana wekutora zvimwe zvirwere
• Kugona kwepfungwa
• Natural matarenda

Hunhu husina kujairika (anomaly) hunoderedzwa kuburikidza nemhuri (nhaka) inogona:

• Usave nekukanganisa hutano hwako kana kugara zvakanaka. Semuenzaniso, hunhu hunogona kungokonzeresa chena chigamba chebvudzi kana earlobe iyo yakareba kupfuura zvakajairwa.
• Iva nemhedzisiro diki, senge ruvara bofu.
• Iva nemhedzisiro huru pahunhu hwako kana hurefu hwehupenyu.

Kune mazhinji magene ekusagadzikana, kurairwa kwemajini kunorayirwa. Vazhinji vakaroora vangangodawo kutsvaga kuberekwa kusati kwazvarwa kana mumwe wavo aine chirwere chemagene.

Vanhu vane masero ane 46 chromosomes. Izvi zvine ma chromosomes maviri anoona kuti ndedzipi dzebonde (X uye Y chromosomes), uye makumi maviri nemaviri mapaundi emakondosomes (eosomal). Vanhurume vari "46, XY" uye vakadzi vari "46, XX." Iwo ma chromosomes anoumbwa netambo dzehumwe ruzivo dzinonzi DNA. Chromosome yega yega ine zvikamu zveDNA zvinodaidzwa kuti magene. Majini anotakura ruzivo runodiwa nemuviri wako kugadzira mamwe mapuroteni.

Imwe neimwe mairi echomosomal chromosomes ane chromosome imwe kubva kuna amai uye imwe kubva kuna baba. Chromosome yega yega mune vaviri inotakura zvakangofanana ruzivo; ndokuti, yega yega chromosome vaviri vane magene akafanana. Dzimwe nguva pane zvishoma mutsauko wemajini aya. Aya misiyano inoitika mune isingasviki 1% yeiyo DNA kuteedzana. Magen'a ane aya misiyano anonzi alleles.

Kumwe kwekusiyana uku kunogona kukonzeresa mune geni risina kujairika. Iyo geni isina kujairika inogona kutungamira kune isina kujairika mapuroteni kana huwandu husina kujairika hwepuroteni yakajairika. Mune maviri echomosomal chromosomes, pane maviri makopi ejeni rega rega, rimwe kubva kumubereki mumwe nemumwe. Kana imwe yemagen'a aya isina kujairika, imwe yacho inogona kugadzira mapuroteni akakwana kuitira kuti pasave nechirwere chinomuka. Kana izvi zvikaitika, iro geni risina kujairika rinonzi recessive. Magen'a ekudzokorodza anonzi anogarwa nhaka mune chero autosomal recessive kana X-yakabatana pateni. Kana makopi maviri eakajairika jeni aripo, chirwere chinogona kukura.

Nekudaro, kana rimwe chete geni risina kujairika richidikanwa kuburitsa chirwere, zvinotungamira kune yakakomba nhaka yekugara. Panyaya yedambudziko rakakura, kana rimwe geni risina kujairika rakagamuchirwa kubva kuna amai kana baba, mwana anogona kuzoratidza chirwere.

Munhu ane rimwe geni risina kujairika anonzi heterozygous yeiyo geni. Kana mwana akagashira chisina kujairika chirwere chirwere geni kubva kune vese vabereki, mwana anozoratidza chirwere uye achave homozygous (kana mukomboni heterozygous) yeiyo geni.

ZVINONYANYA KUKWANA

Zvinenge zvese zvirwere zvine hutachiona. Zvisinei, kukosha kwechinhu ichocho kunosiyana. Kukanganisika uko majini anoita basa rakakosha (hutachiona hutachiona) hunogona kuverengerwa se:

• Imwe-geni kuremara
• Chromosomal kusagadzikana
• Multifactorial

Imwe-geni kusagadzikana (inonziwo Mendelian kusagadzikana) inokonzerwa nehurema mune rimwe geni. Kumwe kusakwana kwemajini hakuwanzo. Asi sezvo paine zviuru nezviuru zvinozivikanwa zvega zvemagene zvinetso, kusangana kwavo kwakakosha.

Imwe-geni kusagadzikana kunoonekwa nemabatirwo aanoitwa mumhuri. Iko kune matanhatu ezvinyorwa maitiro eiyo imwe geni nhaka.

• Autosomal inotonga
• Autosomal yakawandisa
• X-yakabatana yakanyanya
• X-yakabatanidzwa yakawandisa
• Y-yakabatanidzwa nhaka
• Maternal (mitochondrial) nhaka

Izvo zvinoonekwa zvinoitika zvejeni (kuoneka kwechirwere) zvinonzi phenotype.

Mune autosomal rakakunda nhaka, izvo zvisina kujairika kana zvisizvo zvinowanzoonekwa mune ese mazera. Nguva imwe neimwe mubereki akabatwa, angave murume kana mukadzi, ane mwana, mwana iyeye ane 50% mukana wekugara nhaka chirwere.

Vanhu vane imwe kopi yeakawandisa chirwere geni vanonzi vatakuri. Vatakuri kazhinji havana zviratidzo zvechirwere. Asi, iyo geni inowanzo kuwanikwa neyakaomarara marabhoritari bvunzo.

Mune autosomal yakawandisa nhaka, vabereki vemunhu akabatwa vanogona kusaratidza chirwere (ivo vatakuri). Pakati nepakati, mukana wekuti vabereki vanotakura vangave nevana vanokura chirwere i25% nepamuviri pese. Vana vechirume nevevakadzi zvakafanana vangangobatwa. Kuti mwana ave nezviratidzo zve autosomal recessive kusagadzikana, mwana anofanirwa kugamuchira isina kujairika geni kubva kuvabereki vaviri. Nekuti kukanganisika kwakanyanya hakuwanzoitika, mwana ari mungozi yekuwedzera chirwere kana vabereki vari vehukama. Vakabatana vanhu vane mukana wekuti vagare nhaka yakafanana isingawanzo geni kubva kune mumwe tateguru.

Mune X-inosanganisirwa yakawandisa nhaka, mukana wekuwana chirwere wakanyanya kwazvo muvanhurume kupfuura vanhukadzi. Sezvo iro geni risina kujairika rinotakurwa pane X (yechikadzi) chromosome, vanhurume havaitenderi kuvanakomana vavo (vanozogamuchira Y chromosome kubva kuna madzibaba avo). Nekudaro, ivo vanoendesa iyo kune vanasikana vavo. Mumadzimai, kuvapo kwechimwe chakajairika X chromosome inovhara mhedzisiro yeX chromosome ine isina kujairika geni. Nekudaro, vangangoita vese vanasikana vemurume akabatwa vanoita kunge vakajairika, asi vese vatakuri veiyo isina kujairika geni. Nguva imwe neimwe apo vanasikana ava vanobereka mwanakomana, pane mukana we50% kuti mwanakomana agamuchire iro geni risina kujairika.

Mune X-yakabatana yakakunda nhaka, iyo isina kujairika geni inoonekwa mune vanhukadzi kunyangwe paine zvekare yakajairwa X chromosome iripo. Sezvo vanhurume vachipfuudza Y chromosome kuvanakomana vavo, vanhurume vanokanganisika havazovi nevanakomana Vese vanasikana vavo vanozobatwa, zvakadaro. Vanakomana kana vanasikana vevakadzi vanobatwa vane mukana we50% wekubata chirwere.

MIENZANISO YEMAHARA GENE KUSANGANA

Autosomal yakawandisa:

• Kushomeka kweADA (dzimwe nguva kunodaidzwa kunzi "mukomana mubhodhoro" chirwere)
• Alpha-1-antitrypsin (AAT) kushomeka
• Cystic fibrosis (CF)
• Phenylketonuria (PKU)
• Sickle cell anemia

X-yakabatanidzwa yakawandisa:

• Duchenne muscular dystrophy
• Hemophilia A

Autosomal inonyanya kutonga:

• Yemhuri hypercholesterolemia
• Marfan chirwere

X-yakabatana yakanyanya:

Chete mashoma, asingawanzo, matambudziko ari X-akabatanidzwa akakurisa. Imwe yeiyi hypophosphatemic rickets, inonziwo vhitamini D - inomiririra rickets.

KUNYANYA KUNOGARA

Mumatambudziko echromosomal, hurema hwacho hunokonzerwa nekuwedzera kana kushomeka kwemajini ari muchikamu chose chromosome kana chromosome.

Chromosomal matambudziko anosanganisira:

• 22q11.2 microdeletion chirwere
• Down chirwere
• Klinefelter chirwere
• Turner chirwere

ZVINOKOSHA ZVAKAWANDA

Zvizhinji zvezvirwere zvakajairika zvinokonzerwa nekubatana kwemajini akati wandei uye zvinhu zviri munharaunda (semuenzaniso, zvirwere muna amai nemishonga). Izvi zvinosanganisira:

• Asima
• Gomarara
• Coronary chirwere chemoyo
• Chirwere cheshuga
• Hypertension
• Kurohwa

MITOCHONDRIAL DNA-DZAKANYANYA KUSANGANA

Mitochondria zvidimbu zvidiki zvinowanikwa mumasero mazhinji emuviri. Ivo vane basa rekugadzira simba mukati memasero. Mitochondria ine yavo yakavanzika DNA.

Mumakore achangopfuura, kusagadzikana kwakawanda kwakaratidzirwa kunokonzerwa neshanduko (shanduko) muDNA yemitochondrial. Nekuti mitochondria inouya chete kubva kune iro rechikadzi zai, matambudziko mazhinji ane hukama-neDNA-akapfuudzwa kubva kuna amai.

Mitochondrial DNA-inokanganisa matambudziko anogona kuoneka chero zera. Ivo vane akasiyana siyana zviratidzo nezviratidzo. Matambudziko aya anogona kukonzera:

• Bofu
• Kubudirira kunonoka
• Matambudziko emimba
• Kunzwa kurasikirwa
• Matambudziko emoyo mutinhimira
• Kukanganiswa kwemetabolism
• Pfupi chimiro

Zvimwe zvinetswa zvinozivikanwawo sekusagadzikana kwemitochondrial, asi hazvireve kuchinja mutochondrial DNA. Idzi nyonganiso dzinowanzo kuve dzisina kuroorwa kwemajini. Ivo vanotevedzera iwo maitiro akafanana enhaka sevamwe vasina rimwe geni kusagadzikana. Mazhinji ari autosomal akawandisa.

Homozygous; Nhaka; Heterozygous; Maitiro enhaka; Nhaka uye chirwere; Inotenderwa; Zviratidzo zveGenetic

• Genetics

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