Izifo kwezakhi njengelifa. uvavanyo Medical and genetic

Ukususela abazali umntwana kufumana kuphela iliso umbala ethile, ukuphakama okanye imilo ebusweni, kodwa izifo zofuzo azuze. Ntoni na ke? njani ndizifumana? Yintoni ukuhlelwa izifo zamafa ezikhoyo?

Iindlela yofuzo

Ngaphambi kokuba uthethe ngesi sifo, kuyimfuneko ukuba uqonde into yofuzo. Lonke ulwazi ngathi iqulethwe kwemolekyuli DNA, nto leyo iquka amatyathanga kuchulumancisa elide asidi acid. Le alternation yezi acid yahlukile.

iziqwenga DNA umcu zibizwa ngokuba yemfuza. isakhi ngasinye kukho inkcazelo epheleleyo malunga neempawu elinye okanye ngaphezulu emzimbeni, apho sivela kubazali abantwana, ezifana ibala lolusu, iinwele, phawu abalinganiswa, njalo njalo. D. Ukuba zonakele okanye ukuhlukunyezwa yomsebenzi wabo kubonakala isifo yemfuza, wadluliselwa yi lilifa.

DNA ulungiselelwe zofuzo 46 okanye izibini-23, enye into ngesondo. Zofuzo anoxanduva umsebenzi gene, ukukopa, kunye nokufunyanwa yokwenzakala. Ngenxa yoko ifakwe kwi isibini ngasinye kukho chromosome enye uyise aze omnye abe ngunina.

Enanikade omnye zofuzo bekuya kuba lisalawula kunye nezinye i sofuzo okanye ukungasebenzi. Simplistically, ukuba gene kayise ngeliso umbala, bekuya kuba ezibalaseleyo, umntwana uya ilifa olu phawu kuye, kungekhona ukusuka kumama.

izifo zofuzo

nezifo kwenzeka xa indlela ukugcinwa kunye nokusasazwa zokuphula ulwazi yemfuza kwenzeka, wezakhi. Ephilayo kabani gene yonakele, uya kucanda kwinzala babo ngendlela efanayo njengoko izinto esempilweni.

Kwimeko apho sofuzo engaqhelekanga kukuba sofuzo, kusenokwenzeka akazukuvela kwisizukulwana esilandelayo, kodwa ukuba iziphathi yayo. Chance ukuba gene lubalaseleyo abayi aboniswe ukuba ikhona, xa isakhi esempilweni bekuza kuba lubalaseleyo.

Ngoku waziwa izifo zofuzo ngaphezulu kwama-6000. Abaninzi kubo kuvela emva kweminyaka 35, yaye ezinye abangenakuze tivula umnini. Ngenxa aqhelekileyo kakhulu wabonakalaliswa iswekile sinwenwa, ukutyeba, ukhwekhwe, isifo i-Alzheimer, ngesifo kunye nezinye izifo.

ngezigaba

izifo Genetic, ilifa, abe inani enkulu kwiintlobo. Ukuba bazohlule babe ngamaqela ahlukeneyo zazo ingqalelo indawo ukungathobeli, ebangela, picture lwezonyango, uhlobo kwimfuza.

Ezizifo zihlelwe ngokungqinelana uhlobo yelifa kunye neendawo sofuzo alusebenzi. Ngoko, ke gene ebalulekileyo zibekwe chromosome ngokwesondo okanye non-ngokwesondo (autosome), kwaye kakhulu okanye hayi. Bekela bucala isifo:

• Autosomal lubalaseleyo - brachydactyly, arachnodactyly, ectopia lens.
• Autosomal sofuzo - albino, eqatha DYSTONIA muscular.
• Umgangatho Limited (kukho abafazi kuphela okanye abantu) - kubazali bakhe A and B, umbala ubumfama, ukukhubazeka, isifo seswekile phosphate.

yokuhlela ubuninzi nobulunga kwezifo zamafa chonga yemfuza, chromosomal kunye neendidi ayo. Le yokugqibela ibhekisa DNA kwi ukuphazamiseka mitochondria ngaphandle kernel. I ezimbini zokuqala kwenzeka DNA, nto leyo ibekwe yeseli nucleus, kwaye ohlobo ezininzi:

oonobangela

Yethu izakhi badla kuphela ukugcina ulwazi, kodwa utshintsho kuyo, ekufumaneni ezintsha iimpawu. Le kuguquka. Kwenzeka kunqabile, malunga 1 ixesha amatyala million kwaye zidlulele inzala, ukuba kwenzeka iiseli lwegciwane. Kuba eyodwa frequency gene uguquko-1: 108.

Izakhi yinkqubo yendalo yaye yakha isiseko Ukwahluka yendaleko zonke izidalwa eziphilayo. Isinceda kunye yingozi. Abanye asinceda njani ukuba engcono kwimo engqongileyo kunye nendlela yokuphila (umzekelo, abaphikisa nasesithupheni), abanye ekhokelayo sisifo.

Kukuvela ezingaqhelekanga xa gene ikhawulezisa ngokomzimba, iikhemikhali kunye eziphilayo imiba mutagenic. Le propati wayenayo eminye sezakhi, nitrate, nitrites, ezinye ongeziweyo ukutya, izinambuzane, izinyibilikisi kunye neemveliso ioli.

Phakathi imiba neeplanethi ionizing nemitha radioactive, yelanga eyingozi, ngokugqithiseleyo amaqondo obushushu aphezulu nezisezantsi. Njengoko izinto ababazalayo intsholongwane rubella, yemasisi ezisegazini, njalo-njalo. D.

yofuzo

Abazali nya nje imfundo. Yinto eyaziwayo ukuba abanye abantu babe nethuba enkulu ingenzeka ezinye zezifo kunabanye ngenxa yofuzo. yofuzo sisifo kwenzeka xa umntu ukusuka usapho kukwaphula kwi zofuzo.

Umngcipheko sisifo esithile umntwana kuxhomekeke sex yakhe, kuba ezinye izifo ezosulela kumgca omnye kuphela. Kukwaxhomekeke nasekubeni uluntu kwaye iqondo enozalwano isigulane.

Ukuba umntu ozalwa kuguquka umntwana, ngoko ithuba njengelifa sifo-50%. Gene Kusenokwenzeka ukuba ukuzibonakalisa nangayiphi na indlela, ukuba sofuzo, njengoko kwimeko umtshato kunye umntu, waphila, ithuba lakhe abadlulayo inzala kwenza i-25%. Noko ke, ukuba iqabane uya ubambe i sofuzo enjalo, amathuba obubonakala ezithile kwinzala ukwandisa kwakhona ku-50%.

Indlela yokubona izifo?

Ixesha ukubona izifo okanye ukuthambekela ukunceda Genetics Centre. Ngokuqhelekileyo, loo kuzo zonke izixeko ezikhulu. Ngaphambi kokuba nayiphi na uhlalutyo thethwano kunye nogqirha wakho ukuze ufumanise ukuba ziintoni na iingxaki zempilo waphawula emizalwaneni.

survey Medical and genetic lwenziwa ngokuthatha isampuli yegazi. Isampulu sifundwa ngenyameko yilebhu nantoni na engaqhelekanga. abazali ukuba ngamafama bavame ukuya uthethwano ezinjalo emva kokukhulelwa. Noko ke, iziko yemfuza kufuneka kufika ngexesha ucwangciso yayo.

izifo ilifa kuchaphazela kakubi impilo yengqondo neyomzimba umntwana, ngayo ubomi bakho. Inkoliso yabo nzima ukunyanga, yaye ukuboniswa kwabo ayilungiswanga kuphela ngeendlela zonyango. Ngoko ke, ukuba alungiselele ngcono umntwana onjalo kokuba akheke.

Down engqondweni

Enye izifo zixhaphakileyo kwezakhi - Down syndrome. Senzeka kwiimeko-13 aphume 10000. Le anomaly, apho umntu 46, kunye zofuzo 47. Ukuhlola syndrome kunokuba nangoko ekuzalweni.

Phakathi iimpawu eziphambili ubuso atshabalalisa, waphakamisa iimbombo yamehlo, intamo emfutshane kunye nokungabikho kwezihlunu. Iindlebe ngabona badla liqatywe amehlo ezincinane elibhalwe ngokumileyo, imilo mgaqweni intamo.

Izigulane abantwana onokugula comorbid kunye nezifo - pneumonia, SARS, njl Kungahle exacerbations, ezifana ukungeva, ukubona, hypothyroidism, isifo sentliziyo ... Xa daunizm Uphuhliso yengqondo zithe phantsi kwaye isoloko ihlala kwinqanaba iminyaka esixhenxe.

umsebenzi njalo, imisebenzi ezizodwa kunye amalungiselelo ngcono kakhulu le meko. Kukho iimeko ezininzi ngabantu syndrome efanayo babe kakuhle ukuziphilela, ukufumana imisebenzi kwaye waphumelela yobungcali.

kubazali bakhe

Amila ilifa sifo sichaphazela abantu. Senzeka kanye kwiimeko 10,000. Kubazali bakhe akukho ngayo kwaye kuvela lutshintsho isakhi olulodwa ngesondo X chromosome. Abasetyhini abathwali kuphela kwesi sifo.

Uphawu inkulu kukungabikho iiprotini, elinoxanduva ekunqandeni igazi. Kulo mzekelo, nkqu umothuko minor ukopha ukuba akayeki nje. Maxa wambi kubonakala kuphela ngosuku emva kokwenzakala.

British koroleva Viktoriya yaba inaso kubazali bakhe. Wadlula isifo abaninzi inzala yakhe, kuquka Tsarevich Alexei - unyana ka Tsar Nicholas II. Ngenxa yokugula kwakhe wabizwa ngokuba "basebukhosini" okanye "yeVictorian".

Angelman syndrome

Isifo badla ngokuba "syndrome of unodoli eyonwabileyo" okanye "syndrome Petrushka", ekubeni izigulane kufuneka ethethe walalwa eyintlekisa ehleka, iintshukumo ingalawuleki ezingalweni. Xa oku anomaly luphawulwa ukuphazamiseka kokulala kunye nophuhliso engqondweni.

Syndrome kwenzeka kanye amatyala-10 000 ngenxa yokunqongophala yemfuza ezininzi ukusuka ingalo elide chromosome 15. sifo Angelman uvela kuphela xa kungekho zofuzo kwi chromosome, ilifa kumama wakhe. Xa efanayo gene ndingekhoyo zooyise chromosome, kukho Prader-yamgweba syndrome.

Isifo ayikwazi sinyangeke ngokupheleleyo, kodwa okudambisa iimpawu. Ukwenza oku, olwenziwa emzimbeni kunyango Ukolulwa. Ngokupheleleyo uzimele, izigulane musa ukungena, kodwa unyango ingathatha ukuzinakekela.