Phawu Autosomal lubalaseleyo. uphawu Autosomal sofuzo

Inani lwezifo ezahlukeneyo ingakuvimba kakhulu izenzo zabantu kunye kukhokelela ekufeni, ngalo lonke ixesha. Ngoko kuyimfuneko ukuba uqonde into ebalulekileyo: ezinye ezimbi ezihlambela imisebenzi komzimba nje ezifunyenwe, kwaye, bathi, kuba iingcambu zawo yemfuza. Sithetha ilifa imikhwa autosomal isuka kwizizukulwana ngezizukulwana.

Kuthetha ukuthini kuphawu autosomal

Sijule kakuhle eli gama, kubalulekile kuqala kwiinto zonke, ukuba banikele ingqalelo kule nxalenye nasiphi na isidalwa ephilayo yofuzo. Kwiimeko ezininzi, abantwana khangela ngathi abazali babo, kodwa ngaxeshanye phakathi usapho olunye phantse kusoloko kubonakala umahluko ezithile.

Ngamanye amazwi, ngamnye uneempawu zawo ngamnye, kodwa ke eneneni yinxalenye yelifa yemfuza. Ngaloo ndlela, uphawu autosomal - namnye ngaphandle ilifa zofuzo lwabazali.

Transmission kwezifo

Ukongeza ngokweempawu ezithile ngamnye, umntu ilifa uyise kunye nezinye izifo nonina. Le nyaniso ngenxa yempembelelo ukuguquka yemizila abekiwe kule autosomes. Kulo mzekelo, le miqondiso lungohlulwa lube kwiindawo ezimbini eziphambili: lubalaseleyo kunye sofuzo. Zombini kuba nefuthe elibonakalayo isakhiwo ilifa ngamnye.

isici Autosomal ekhonyayo

uhlobo nganye ilifa yayo ethile. Xa siqwalasela indlela autosomal elibalaseleyo, kubalulekile ukuphawula ukuba kule meko ngenxa esi sifo ilifa ngokudluliselwa obanelisayo allele njengesi nokuba ngumzali. Loo msebenzi ilifa ngokulinganayo kungenzeka amadoda kwanabafazi. Enyanisweni, ilifa autosomal zimbini inokuchazwa uphawu transfer, nelawulwa yi izakhi allele autosomal lubalaseleyo. Nale hlobo lilifa ukubonakalalisa sifo siya omnye kuphela allele njengesi, yenzelwe ukuba i autosome.

Iindaba ezimnandi kukuba uninzi izifo ezidluliselwa ngendlela efanayo, ingozi ephawulekayo akangonobangela, engathanga kuba nefuthe elibi kwi umsebenzi yabantu okuzala. Ukuba uthelekisa inqanaba azinampembelelo ipesenti kwezifo, iimpawu lubalaseleyo badla ukuba imzisele naluphi na utyeshelo, kunokuba sofuzo. Phambi kuguquka onjalo kwenye isibini kunye ingozi yempilo ngokupheleleyo yesibini yokosulela sifo-50%. Ngenxa yesi sizathu, i-autosomal phawu lubalaseleyo, nto leyo ebonakaliswa ngokohlobo kuguquka kungaba kudluliselwa ukusuka kwisizukulwana ukuya kwisizukulwana kunye, ngaloo ndlela, yiba umlinganiswa nentsapho. Ngokungafaniyo autosomal sofuzo, wabonakalaliswa heterozygotes abaye babe alleles omnye mutated yaye omnye eqhelekileyo kwi zofuzo homologous le miqondiso.

Isifo kunye nelifa autosomal ukhonya

Kule hlobo yokosulela uphawu ilifa ekuphuhliseni kwisizukulwana esilandelayo esi sifo ngokwaneleyo heterozygous wezakhi yenethiwekhi. An into umdla kukuba uphawu autosomal lubalaseleyo kuthetha amaza efanayo njengoko sifo ngamantombazana namakhwenkwe.

Ukuba isifo kusisiphumo nefuthe lolu hlobo yokosulela kwimfuza, kukho umntwana, nakuba bobabini abazali zisempilweni, ngoko eli Inyaniso ukuvela kuguquka entsha iiseli intsholongwane umama okanye utata. Kubalulekile ukuqonda ukuba enye intsapho neziphumo gene lubalaseleyo xa abantwana babe ezahlukeneyo. Oku kuthetha ukuba umfanekiso lwezonyango kunye nobungozi besi sifo ayikho kuthi efanayo.

imizekelo yezifo

Autosomal uhlobo phawu lubalaseleyo eyakhankanywa yesifo, ezifana yiMarfan syndrome. Loo uphethwe ukuba zomzimba nokuqina emzimbeni womntu wambulala. Xa izigulane abaphethwe yiMarfan syndrome idla ngokuba iminwe izikhwebu ezingcakacileyo omzimba ubude omkhulu. Abantu abanjalo badla ukuphuhlisa malformations le aorta kunye kwezivalo inhliziyo.

Enye isifo ilifa, echazwe yi kukho autosomal ilifa ezibalaseleyo iimpawu, - i brachydactyly, yena korotkopalost. Olu luphawu ezinqabileyo, ivela ngathi omnye wabazali. Ukubonakalalisa sifo sele ephawuleka ngemihla kwangoko emva kokuzalwa ngenxa yeenguqu nemvelo kwi phalanges ze iinzwane kunye nezandla.

ukungeva olilifa - phawu autosomal, nto leyo nayo singachazwa njengento lubalaseleyo.

Lateral sclerosis (ALS, okanye isifo Lou Gehrig kaThixo) nalo ngenxa yelifa autosomal lubalaseleyo attribute libhekisela kwiqela esi sifo motor-neuron. Isifo inokuchazwa esibulalayo disorder oluqhubekayo neurodegenerative, nto leyo ebangelwa angakwazi iiseli nervous system central - luvo motor. Lo msebenzi ungundoqo ezi seli - ukugcina kwezihlunu kunye nokugcinwa lonxulumelwano motor.

Autosomal phawu sofuzo: Iimpawu

Olu hlobo ilifa uneempawu ezininzi ezingundoqo:

• Awukwazi kuchaphazela iwonga abantwana, kwanokuba loo Tari_pedigree waba ezininzi ezithwala izifo zamafa njengoko imikhwa sofuzo azibonakalisa zonke isizukulwana (ilifa tye, ngokungafaniyo iimpawu ukhonya);
• sofuzo njengesi (s) fenopticheski babonakaliswa kuphela kwimeko xa nakwimo homozygous of (aa);
• isifo ilifa livela ngokulinganayo ngokufuthi kangangoko xa kwamabhinqa namadoda;
• amathuba okuba umntwana oya kuzalwa ukwanda wagula kakhulu kwimeko kwemitshato phakathi kwezalamane ezisondeleyo;
• fenopticheski abazali enempilo komntwana kunye sifo ibonakalaliswe abathwali heterozygous zofuzo njengesi.

Kubalulekile ukuqaphela ukuba ezi mpawu zixhaphakileyo phakathi bonke sofuzo ilifa izifo zofuzo autosomal. Izifo ukuba singachazwa njengento ngenxa yalo msebenzi ziquka fermentopathia iqela elikhulu, okukhokelela ukuphazamiseka pathways, izifo igazi (kubandakanywa homeostasis), izintso, amajoni omzimba, kunye nabanye.

Imizekelo autosomal izifo sofuzo

• Iimpawu Le kweliqumrhu banakho kunganxulunyaniswa izifo Gierke (glycogenosis). Okubonakalisa le sifo esibangelwa ukuswela enzyme glucose-6-fotosfatazy, nto leyo ekhokelela ukuba maxongo enkulu ubuchule glucose hepatic nokuzala. Ukophulwa inkqubo ebaluleke nanku kukhokelela hypoglycemia.
• Maple isifo isiraphu umchamo - naye uphawu autosomal, leyo singachazwa njengento sofuzo. Isifo inomnye igama - esi sifo umchamo maple isiraphu. diagnosis olunjalo lubandakanya ukuphazamiseka pathways eliye laba umphumo ukutya ngokungafanelekanga of branched-chain acid. Esi sifo sibangelwa organic acidemia.
• isifo Tay-Sachs, nto leyo eye amagama afana idiocy amavroticheskaya lweentsana kunye ukuswela hexosaminidase. Esi sifo a autosomal yemfuza sofuzo kwaye ikhokelela ukugxagxiseka okuqhubekayo namandla ngokwasemzimbeni nangokwasengqondweni bomntwana.
• Kufuneka kuqatshelwe ukuba, ngokuchaseneyo isifo esinjalo, ukungeva ngeendlebe, autosomal ebonisa sofuzo imibala blindness, kodwa kusenokuba kudidi "sex-amakhonkco '. Ukophulwa umbala inokuba nokuba buso okanye epheleleyo. Avamise kakhulu imbono egqwethekileyo ebomvu. Kubalulekile ukuphawula ukuba kwezinye iimeko, umbono othile of a umbala oluthile lisisiqalo ngaphezu mahluko esemgangathweni phakathi nemibala eminye imibala.

• Phenylketonuria - uphawu autosomal sofuzo, nto leyo ithetha sisifo metabolic ilifa. Kwabangela ukuhlukunyezwa engxakini phenylalanine enzyme.

Yintoni kufuneka kuqondwe izifo, sex-ezinxulumene

Izifo eli qela kubangelwa yinto yokuba abantu babe omnye X chromosome, ngoxa abafazi ababini. Ngako oko, mmeli eyindoda, ilifa sofuzo engaqhelekanga ngamabhinqa hemizygous kunye heterozygous. iimpawu ilifa, ezo ezidluliselwa uhlobo enxulumene X-kunokwenzeka kunye baphicothwa ezahlukeneyo nobudala.

Xa siqwalasela lisalawula ezinxulumene X-ilifa esi sifo, kubalulekile ukuqaphela ukuba kwiimeko ezinjalo zixhaphakile kakhulu kwabasetyhini. Oku kungenxa ithuba ukwanda yokufumana allele zophendlo lwezifo ukusuka ngumzali omnye. Ke abantu, baye bakwazi ilifa sofuzo yolu didi kuphela kunina. Kulo mzekelo, umgca eyindoda phawu autosomal ezibalaseleyo ezinxulumene i X chromosome, ugqithele zonke iintombi, ngoxa esi sifo na ukuzibonakalisa oonyana, ngokuba abafumani chromosome uyise.

Ukuba uhlawula ingqalelo autosomal sofuzo ezinxulumene X-ilifa umqondiso, kunokuthi kubonwe ukuba izifo obunjalo ikakhulu kumadoda hemizygous. Ngenxa yoko, amabhinqa enyanisweni kusoloko heterozygous kwaye, ngenxa yoko, fenopticheski esempilweni. Baneempawu ilifa ezinxulumene X-kuquka izifo ezifana ukuba uneDuchenne muscular dystrophy, Becker, ngokokugqama kunye nezinye Hunter syndrome.

Njengoko ngokuba lilifa Y-edityaniswe, ezi mpawu zibangelwa bubukho Y-chromosome kumadoda kuphela. Isenzo yale gene ukuhambisela kuphela ukusuka kuyise unyana kwizizukulwana.

Iimpawu elifeni indlela ayo

Olu hlobo ilifa ime phandle into yokuba transfer kwenzeka ngokusebenzisa iimpawu ayo ukuba kwi plasma eqandeni. Xa olu chromosome yi thunzi e mitochondria nganye, kwaye iqanda yabo malunga 25 000. kwiDNA Gene kwenzeka mitochondria kwimeko apho emzimbeni kukho ophthalmoplegia ngcembe, myopathy ayo, kunye Umthambo-luvo yoma Leberaf. Izifo ukuba utshitshiseke isenzo kwalo mba zinokusasazwa ukusuka kumama eziya kwi-frequency efanayo njengoko neentombi kunye noonyana.

Ngokubanzi, njenge autosomal imiqondiso unbonded kunye nezinye iintlobo kwiDNA enokuba nefuthe elibonakalayo imeko ebonakalayo izizukulwana ezininzi kwaye unobangela nezifo ezininzi kakhulu.