Nezifo ngenxa yezakhi zofuzo zizuzwe. ukuhlolwa Medical zofuzo

Kusukela abazali bengane zingase zithole hhayi kuphela ezithile umbala wamehlo, ubude noma ukuma ebusweni, kodwa futhi nezifo ngenxa yezakhi zofuzo zizuzwe. Yiziphi? Ngingayithola kanjani kubo? Uyini Ukwahlukaniswa izifo lezinceku khona?

Izinqubo ufuzo

Ngaphambi kokuba ukhulume ngomunye isifo, kubalulekile ukuqonda ukuthi yini yofuzo. Lonke ulwazi ngathi kuqukethwe molecule ye-DNA, esakhiwa i amaketanga unimaginably eside amino acid. Noma alternation of lezi amino acid uhlukile.

DNA Strand izingcezwana abizwa ngokuthi izakhi zofuzo. isakhi ngasinye kuyinto Imininingwane lephelele mayelana eyodwa noma ngaphezulu izimpawu zomzimba, okuyinto sisuka abazali nezingane, ezifana umbala wesikhumba, izinwele, uhlamvu imfanelo, nokunye. D. Uma zilimele noma ukwephulwa umsebenzi wabo avele isifo esidluliselwa ngofuzo, wadluliselwa ifa.

DNA okuhlelwe Ama-chromosomes e-46 noma 23 ngazimbili, enye yazo ngokobulili. Ngokuvamile ama-chromosome banesibopho umsebenzi isakhi sofuzo, ukukopisha, futhi yokutakula ekulimaleni. Ngenxa yalokho sokukhulelwa e pair ngamunye kukhona omunye chromosome kusuka ubaba owodwa kusukela kumama.

Kulokhu omunye izakhi zofuzo kungaba ephezulu kanye nezinye esikhubazayo noma ukuyiveza. Kalula, uma isakhi sofuzo esikhiqiza kayise ngoba umbala wamehlo, kungaba evelele ingane ngeke balizuze ifa le mfanelo kuye, hhayi kusukela kumama.

izifo zofuzo umuntu

izifo ngefa zenzeka lapho lo mshini wesitoreji futhi ukudluliswa kwe-zofuzo ukwephulwa Imininingwane zenzeka wezakhi. Umzimba kabani isakhi sofuzo lilimele, kuzodlula inzalo yabo ngendlela efanayo njengoba izinto enempilo.

Esimeni lapho isakhi sofuzo i normal kuyinto esikhubazayo, kungase angaveli isizukulwane esilandelayo, kodwa kukhona abathwali yayo. Bathuka ukuthi isakhi sofuzo evelele ngeke aboniswe ukuba sibe khona, uma isakhi sofuzo esikhiqiza enempilo laliyoba evelele.

Manje sibizwa nezifo ngenxa yezakhi zofuzo ezingaphezu kuka-6000. Abaningi babo ukuvela ngemuva engu 35, futhi abanye bangase babe neze ukumemezela ngokwawo umnikazi. Nge high imvamisa kakhulu wabonakaliswa ngifundise ngesifo sikashukela, ukukhuluphala ngokweqile, psoriasis, isifo i-Alzheimer, ukusangana nezinye izifo.

ngezigaba

nezifo ngenxa yezakhi zofuzo, ngofuzo, ube nenamba enkulu izinhlobo. Ukuze utihlukanise tibe ahlukene angabhekwa indawo ukuhlukumeza, kubangela, ukucinga indikimba yendaba yomtholampilo, isimo ufuzo.

Izifo kungenziwa ihlukaniswa ngokweminyaka uhlobo ifa nezindawo isakhi sofuzo engaphelele. Ngakho, kuba isakhi sofuzo ezibalulekile akhiwe ngendlela ngokocansi noma okungezona ngokobulili chromosome (autosome), futhi buningi noma cha. Ukunikeza lesi sifo:

• Autosomal evelele - brachydactyly, arachnodactyly, ectopia lens.
• Autosomal esikhubazayo - albino, kwemisipha dystonia sokuwohloka.
• phansi Limited (kukhona abesifazane kuphela noma amadoda) - hemophilia A no-B, umbala ubumpumputhe, ukukhubazeka, isifo sikashukela phosphate.

ngezigaba quantitative and qualitative izifo lezinceku ikhomba zofuzo, chromosomal nezinhlobo mitochondrial. Lesi sakamuva ibhekisela ku-DNA e iziyaluyalu mitochondria ngaphandle ikhenela. Okokuqala okubili kwenzeke kuyi-DNA, esemgwaqweni ku kuyi-nucleus yengqamuzana, futhi ube zenyathi eziningana:

izimbangela

Izakhi zethu zofuzo bavame ukugcina ulwazi hhayi kuphela, kodwa futhi ukuze ukushintshe, abe nezimfanelo ezintsha. Lena wezakhi. Kwenzeka akuvamile, mayelana 1 isikhathi ngasinye amacala million kanti idluliselwa ku inzalo, uma kwenzeka kumaseli lwegciwane. Ukuze olulodwa isakhi sofuzo kuguquka imvamisa kuba 1: 108.

Ukuguqula izakhi zofuzo Uyi inqubo yemvelo futhi yakha isisekelo we kokuhlukana yokuziphendukela kwemvelo zonke izidalwa eziphilayo. Zingaba lisizo futhi elimazayo. Ezinye usisize ukuzivumelanisa kangcono imvelo nendlela yempilo (isibonelo, ababephikisana isithupha), abanye kangako angabangela isifo.

Okuvela kwezinso ukukhubazeka kwezakhi ezithile zofuzo isheshisa ngokomzimba, zamakhemikhali nezinto eziphilayo izici mutagenic. Le mpahla unolwazi ezinye alkaloids, nitrate, nitrites, abanye izithasiselo zokudla, imithi yokubulala izinambuzane, izihlanzi kanye nemikhiqizo kawoyela.

Phakathi kwezici ngokomzimba ionizing nemisebe enemisebe, imisebe ultraviolet, ngokweqile amazinga aphakeme okushisa aphansi. Njengoba izimbangela ababazalayo igciwane rubella, isimungumungwana antigen, nokunye. D.

yofuzo

Abazali nomthelela ukuba singagcini nje ngokuba imfundo. Kuyaziwa ukuthi abanye abantu babe usethubeni elihle elivela kuzo ezinye izifo kunabanye ngenxa yamakhono ufuzo. yofuzo isifo kwenzeka uma othile ovela emndenini kungukuphula ezakhini zofuzo.

Ingozi isifo esithile ingane ithembela ubulili bakhe, ngoba ezinye izifo adluliswa kuphela umugqa owodwa. Iphinde incike uhlanga lwesintu futhi ngezinga of nokuzwelana nesineke.

Uma umuntu ozalwa ngokuguqula izakhi umntwana ke ithuba lesi sifo njengefa 50%. Gene Kungenzeka yini ukuzibonakalisa nganoma iyiphi indlela, ngokuba esikhubazayo, njengoba kwaba njalo endabeni ka-umshado nendoda enempilo, ithuba lakhe ezidlulayo inzalo akha phezu 25%. Nokho, uma oshade naye uyophinde ubambe sakhi sofuzo esikhubazayo ezinjalo, amathuba zako enzalweni ukwandisa futhi ku-50%.

Indlela bahlonze izifo?

Isikhathi ukuthola isifo noma nezici ezithile ukusiza Ufuzo Centre. Ngokuvamile, ezifana ngayo kukho konke emadolobheni amakhulu. Ngaphambi yimuphi ukuhlaziya yokubonisana nodokotela wakho ukuze uthole ukuthi yini zempilo ebonwe izihlobo.

inhlolovo Medical zofuzo futhi olwenziwa athathe igazi. Isampula sifundwa kuwo elabhorethri nganoma yisiphi kwezinso ngokucophelela. abazoba abazali bavame ukuya emihlanganweni wokubonisana ezinjalo ngemva kokukhulelwa. Nokho, maphakathi zofuzo beze ngesikhathi nokuhlelwa.

izifo Ukubambezeleka kusithinta ngempela impilo engokwengqondo nengokomzimba wengane, ezithinta ukuphila okulindelekile. Iningi lawo abantu kunzima ukuyelapha, futhi ukubonisa yabo kushintshwe kuphela ngezinto zokwelapha. Ngakho-ke, ukusilungiselela kangcono ingane enjalo ngaphambi nje ebamba isisu.

Down Syndrome

Esinye sezifo ezivamile zofuzo - Down syndrome. Kwenzeka ezimweni 13 aphume 10000. Lokhu anomaly, lapho umuntu has 46, futhi Ama-chromosomes e-47. Xilonga sifo kungaba ngokushesha lapho sizalwa.

Phakathi izimpawu eyinhloko ubuso esiyisicaba, ephakanyiswe amakhona amehlo, Intamo esifushane yokuntuleka imisipha ithoni. Izindlebe ngokuvamile imbobo amehlo amancane etshekile, ukuma okungajwayelekile Yekhanda.

Iziguli izingane ukuba nenkinga comorbid nezifo - pneumonia, SARS, njll Ungezwa exacerbations, ezifana ukulahlekelwa ukuzwa, emehlweni, i-hypothyroidism, isifo senhliziyo ... Lapho daunizm kwengqondo is ehlile futhi ngokuvamile uhlala ezingeni iminyaka eyisikhombisa.

umsebenzi njalo, umzimba akhethekile amalungiselelo ngcono kakhulu isimo. Kukhona abantu abaningi nge syndrome efanayo ingase ibe kahle ukuziphilela, ukuthola imisebenzi babe baphumelele okhokhelwayo.

hemophilia

A ezingavamile isifo ngofuzo esithinta amadoda. Kwenzeka kanye ezimweni 10,000. Hemophilia is hhayi ziphathwe futhi kuphakama kusukela izinguquko isakhi esisodwa socansi X chromosome. Abesifazane kuphela abathwala lesi sifo.

Isici esiyinhloko ukuntuleka amaprotheni, okuyinto unomthwalo igazi ekunqandeni. Kulokhu, ngisho ukuhlukumezeka ezincane ebangela ukopha ukuthi akamane nje ayeke. Ngezinye izikhathi kubonakala kuphela ngosuku emva ukulimala.

British koroleva Viktoriya kwaba othwala hemophilia. Wadlula isifo ukuze isizukulwane sakhe, kuhlanganise Tsarevich Alexei - indodana Tsar uNicholas II. Ngenxa ukugula kwakhe kamuva eyabizwa ngokuthi i "bobukhosi 'noma" uVictoria ".

Angelman syndrome

Lesi sifo ngokuvamile okuthiwa i- "syndrome of unodoli uyajabula" noma "syndrome Petrushka", njengoba iziguli ukuqhuma njalo yokuhlekwa ukumomotheka, ukunyakaza esingalawuleki izingalo. Uma lokhu anomaly libhekene ukuphazamiseka kokulala nentuthuko ngokwengqondo.

Syndrome livela kanye ngamunye amacala 10 000 ngenxa yokuntuleka zezakhi zofuzo eziningana kusukela ingalo eside chromosome 15. isifo Angelman eba kuphela uma azikho zofuzo-chromosome, ngofuzo ovela kunina. Lapho izakhi zofuzo ezifanayo bengekho e-chromosome zoyise, kukhona Prader-Willi syndrome.

Lesi sifo ngeke welaphe ngokuphelele, kodwa kungenzeka izimpawu. Ukuze wenze lokhu, olwenziwa ukwelashwa ngokomzimba kanye ukubhucungwa umzimba. Ngokugcwele ezimele, iziguli ungatholi, kodwa zokwelapha kungase ukuzinakekela.