Cibiyar kimiyya
A gaskiya, babu iyaye da aka sa hannu akan wannan hadarin. Kowannenmu yana ɗauke da nau'i nau'i nau'i nau'i nau'in rayuka iri iri, wanda muka karɓa daga danginmu kuma, watakila, za mu ba wa 'ya'yanmu. A yau, ilimin kimiyya ya san game da cututtuka 5000, wanda ya ci gaba saboda matsaloli a cikin kwayoyin halittar mutum - a cikin kwayoyin ko chromosomes.
An raba su zuwa manyan kungiyoyi uku: monogenic, polygenic da chromosomal.
Yau kusan dukkanin ilimin halitta za'a iya bayyana daga ma'anar kwayoyin halitta. Kodayake tayi - halayyar rigakafi na rigakafi, cholelithiasis - rashin lafiya na rayuwa.
Nau'in cututtuka
Magungunan monogenic suna lalacewa ta hanyar lahani daya. A yau, kimanin 1400 irin wannan cututtuka da aka sani. Kodayake yawancin su yana da ƙasa (5-10% na yawan adadin cututtuka), basu ɓacewa gaba daya. Daga cikin mafi yawan mutane a Rasha - cystic fibrosis, phenylketonuria, adrenogenital ciwo, g-lactosemia. Don gano waɗannan pathologies, duk jariri a kasarmu na fuskantar gwaje-gwaje na musamman (rashin alheri, babu wata ƙasa a duniya da zai iya duba yara a gaban dukkanin kwayoyin cutar). Idan an sami raguwa, an canza jariri zuwa abincin da aka sha, wanda dole ne a kiyaye kafin ya kai shekaru 12, kuma wani lokaci har zuwa shekaru 18. Idan iyaye mara lafiya sun haife 'ya'yan lafiya, to, dukan zuriyar' yan karshen za su kasance "ba tare da lahani" ba.
Hannun ƙwayar ƙwayoyin cuta (ko multifactorial) suna haɗuwa da cin zarafin haɗuwa da jinsin da dama, da kuma abubuwan muhalli. Wannan ita ce ƙungiya mafi yawan - ciki har da kashi 90% na dukkanin cututtuka na mutane da suka shafi rigakafi da magani.
Hanyoyin sufuri
Babban magungunan cutar shine mahaifiyarsa ko mahaifa. Idan duka suna fama da cutar, haɗarin yakan kara sau da yawa. Duk da haka, koda idan kai da matarka suna da lafiya, akwai wasu kwayoyin cuta a jikinka. Ana magance su kawai da al'ada da "shiru." Idan kana da irin wannan "tsararru" tare da mijinki, 'ya'yanku na iya haifar da cutar marasa lafiya.
Halin nasa ya kasance cikin cututtuka "hade da jima'i" - hemophilia, cutar Günter. Ana sarrafa su ta hanyar kwayoyin da ke cikin jima'i chromosome. Iyaye na masu haƙuri suna da nau'o'in ilimin ilimin halitta, ciwon ci gaba (ciki har da launi da kuma bakin wolf). A wasu lokuta, iyaye ba su yada cutar kanta ba, amma sunadaba a gare shi (cututtukan ciwon sukari, cututtukan zuciya na zuciya, cututtuka). Yara suna samun mummunan hade da kwayoyin halitta, wanda a wasu yanayi (damuwa, damuwa mai tsanani, ilimin halayyar rashin lafiya) zai iya haifar da ci gaba da cutar. Kuma mafi yawan maganganun da ke cikin uwa ko uba, hakan ya fi girma.
Kwayoyin cututtuka na Chromosomal na mutum, da rigakafi da magani sun ba da yawan lokaci da ƙoƙari, sun tashi saboda sauyawa a lambar da tsarin chromosomes. Alal misali, shahararrun shahararrun cututtuka - Down - cutar ta haifar da kashi biyu daga cikin 2 chromosomes. Irin wannan maye gurbin ba haka ba ne, suna faruwa a cikin 6 na jarirai. Sauran cututtuka na kowa shine cututtuka na Turner, Edwards, Patau. Dukkanin su suna da lahani iri-iri: jinkirta a ci gaba na jiki, ƙaddamarwa na tunanin mutum, cututtuka na zuciya, jinsin dabbobi, juyayi da sauran malformations. Ba a gano magungunan abubuwan da ba a gano ba.
Yarinyar zai iya zama lafiya, amma idan mahaifiyar mai dauke da kwayar halitta ne, yiwuwar samar da yaro mai rashin lafiya shine kashi 5%. An haifi 'yan mata lafiya, amma rabin su, su biyun, sun zama masu ɗaukar nauyin ɓarna. Uban mara lafiya ba ya aika da cutar ga 'ya'yansa maza. 'Yan mata zasu iya yin rashin lafiya kawai idan mahaifiyar ta kasance mai ɗaukar hoto.
Daga Masarautar Masar
Fir'auna Akhenaten da Sarauniyar Nefertiti waɗanda suka kasance tsofaffi suna nuna alamun bayyanar. Ya juya, ba wai kawai hangen nesa ba ne na zane-zane. Bisa ga ma'anar da ba'a sani ba, siffar "hasumiya" ta kwanyar, ƙananan idanu, ƙananan hanyoyi (abin da ake kira "gizo-gizo gizo-gizo"), mashahuran da ba a gina ba ("tsuntsu"), masana kimiyya sun gano Minkowski-Shafar ciwo - daya daga cikin mahaifa anemia (anemia).
Daga Tarihin Rasha
Rashin zubar da jinin jini (hemophilia) a cikin dan Tsar Nicholas II na Tsakiya na Tsakiya II Tsarevich Alexei shi ma yana da asali a yanayin. Wannan cututtuka ana daukar kwayar cutar ne ta hanyar layi, amma an bayyana shi ne kawai a cikin samari. Mafi mahimmanci, wanda ya mallaki asalin hemophilia ita ce Sarauniya Victoria na Birtaniya, tsohuwar tsohuwar Alexei.
Difficulties a gano
Kwayoyin cututtuka ba koyaushe suna bayyana kansu daga haihuwa. Wasu nau'i na tsinkayar tunanin mutum ya zama sananne ne kawai lokacin da yaron ya fara magana ko ya tafi makaranta. Amma yin amfani da Goettington (wani nau'i na ci gaba da hankali) zai iya ganewa kawai bayan shekaru.
Bugu da ƙari, kwayoyin "sautuka" za su iya zama masifa. Ayyukansu zasu iya bayyana a duk tsawon rayuwarsu - a ƙarƙashin rinjayar ƙananan abubuwa (salon rashin lafiya, shan magunguna, radiation, gurɓin muhalli). Idan jaririn ya shiga cikin haɗari, zaka iya shawo kan kwayoyin halitta wanda zai taimaka wajen gano yiwuwar cutar a kowane hali. Bugu da ari, gwani zai iya tsara matakan tsaro. Idan kwayoyin cututtuka sun fi rinjaye, ba zai yiwu a guji cutar ba. Kuna iya taimakawa bayyanar cututtuka na cutar. Better yet, kokarin yi musu gargaɗi kafin bayarwa.
Rukunin hadarin
Idan kai da matarka suna da ɗaya daga cikin waɗannan dalilai, to ya fi dacewa kuyi shawara kafin kuyi ciki.
1. Gabatarwa da yawa daga cututtukan cututtuka a kan duka layi. Ko da kun kasance lafiya, za ku iya zama masu ɗaukar nauyin kwayoyin cuta.
2. Shekaru ya wuce shekaru 35. A cikin shekaru, adadin maye gurbi a jiki yana tarawa. Hasarin yawancin cututtuka yana girma a fili. Saboda haka, tare da cutar Down don 'yan uwa masu shekaru 16, ita ce 1: 1640, ga' yan shekaru 30 - 1: 720, ga 'yan shekaru 40 - riga 1:70.
3. Haihuwar yara da suka rigaya da cututtuka masu yawa.
4. Abubuwa da dama na rashin kuskure. Sau da yawa, suna haifar da mummunar kwayoyin halitta ko nakasasshen ƙwayoyin cuta a cikin tayin.
5. Cincin magunguna ta ci gaba da ci gaba (magunguna, antithyroid, maganin antitumor, corticosteroids).
6. Saduwa da abubuwa masu guba da abubuwa masu rai da rai, da kuma maye gurbi da maganin ƙwayoyi. Duk wannan zai haifar da maye gurbin kwayoyin halitta.
Godiya ga ci gaba da maganin, yanzu duk iyaye suna da zabi - don ci gaba da tarihin iyali na rashin lafiya mai tsanani ko don katse shi.
Hanyar rigakafi
Idan kana cikin haɗari, kana buƙatar shiga ta hanyar shawarwari tare da mahallin halitta. Bisa ga cikakkun bayanai da sauran bayanai, zai yanke shawara ko tsoronka ya cancanta. Idan likita ya tabbatar da haɗari, ya kamata ku shiga ta gwajin kwayoyin. Zai ƙayyade ko kuna ɗauke da lalacewar haɗari.
Idan hadari na samar da yaro mara lafiya ya yi yawa, masana sun bada shawara maimakon tunanin tunani na jiki don samuwa zuwa hade mai in vitro (IVF) tare da nazarin kwayoyin halitta (PGD). PGD yana ba da damar tantanin kwayar halitta daga embryo don gane ko lafiya ko rashin lafiya. Bayan haka, an zaɓi jariri ne kawai a cikin mahaifa. Bayan IVF, hawan ciki shine 40% (fiye da ɗaya hanya ana iya buƙata). Ya kamata a tuna da cewa an gwada amfrayo ne don wani cututtuka (wadda aka gano a gaba na haɗari mai haɗari). Wannan ba yana nufin cewa yaron da aka haife shi a karshen an tabbatar dashi akan wasu cututtuka, ciki har da cututtuka masu asali. PGD wata hanya ce mai wuya kuma bata da tsada, amma yana aiki sosai a hannun hannu.
A lokacin daukar ciki, yana da muhimmanci a ziyarci dukkanin shirye-shiryen dan tayi da kuma bayar da jini ga "gwaji sau uku" (don tantance darajar ci gaban ilimin cututtuka). Tare da haɗarin maye gurbin chromosomal, za'a iya yin amfani da biopsy chorionic. Ko da yake akwai barazanar zubar da ciki, wannan magudi yana iya tabbatar da kasancewa da abubuwan rashin hauka na chromosomal. Idan aka samo su, an ba da shawara a katse ciki.