E riro mate ira. whakamātautau Medical me ira

Mai i te mau metua e whiwhi i te tamaiti e kore e anake te tetahi tae kanohi, teitei āhua o te mata ranei, engari ano hoki mate ira e riro. He aha e ratou? Pehea e taea kitea ratou e ahau? He aha te mea te whakarōpū o mate tuku te tīariari?

Ko te tikanga o te whakapapa

I mua i korero e pā ana ki te mate, he mea e tika ana ki te matau ki ta kainga ira. roto ngā mōhiohio katoa e pā ana ki a tatou i roto i te rāpoi ngota pītauira, e ngā o unimaginably roa te mekameka o waikawa amino. He ahurei te whakarerekētanga o enei waikawa amino.

e karangatia whenu DNA whatiwhatinga ira. Ia ira ko te kōrero katoa e pā ana ki te kotahi, neke atu rānei tohu o te tinana, tuku nei i ngā mātua ki ngā tamariki, pērā i te tae kiri, makawe, huru huru, ka pera i runga i. D. Ki te pakaru ratou ranei puta takahi o ratou mahi mate ira, tuku e tupu.

whakaritea DNA i roto i pūira 46 ranei 23 takirua, tetahi o te mea fakasekisualé. He kawenga mō te mahi ira, te tāruatanga, me te ora i te whara pūira. Ko te mutunga o te kikiritanga i roto i ia rua ki reira he kotahi pūira i te papa, me te kotahi i te whaea.

Ai e kia kotahi o nga ira tino me te tahi atu ngoikore tāmia ranei. Simplistically, ki te ira o tona papa mo te tae kanohi, e kia tino, ka riro te tamaiti tenei huaira i ia, e kore i te whaea.

mate ira

mate tuku iho puta ina puta te huarahi o te rokiroki, me te tuku o maumaui mōhiohio ā-ira, irakētanga ranei. Rauropi he koha tona ira, ka haere ki runga ki ki to ratou uri i roto i te ara ano rite te mea hauora.

I roto i te take i reira ko ngoikore te ira rerekē, e kore e puta i te reira i roto i te whakatupuranga i muri, engari ko ratou ona kawe. Otira e te ira tino kore e kia whakaaturia ki te tīariari, ka hoki e kia tino he ira hauora.

Kei te mohiotia te reira i teie nei hau atu i te 6000 mate ira. He tokomaha o ratou puta i muri i te tau 35, me kore kia etahi e whakaatu ake i te rangatira. Ki te whakakitea te auau tino nui huka mellitus, te mōmona, psoriasis, te mate o Alzheimer, tuakoi, me te tahi atu disorders.

whakarōpū

mate ira, riro, i te maha nui o ngā momo. Hei wehe ratou ki ngā rōpū motuhake taea te whakaaro he wāhi takahi, ai, pikitia haumanu, te āhua o te whakapapa.

Ka taea te whakarōpūtia Diseases rite ki te momo o te tupu me te wāhi o te ira. Na, ko reira ira nui kei roto i te pūira fakasekisualé ranei kore-fakasekisualé (autosome), a ko reira rutaki kore ranei. Tohatoha i te mate:

• Autosomal tino - brachydactyly, arachnodactyly, ectopia o te arotahi.
• Autosomal ngoikore - kirikōtea, uaua dystonia ma'ii'o.
• papa Limited (kei reira anake wahine ranei te tangata) - hemophilia A me B, te matapo tae, pāpāngia, mate huka Phosphate.

whakarōpū ine, me te kounga o te mate tuku tāutu ira, pūira me ngā momo punaraungao. E pā ana te whakamutunga ki te DNA i roto i te disorders pungaraungao waho te pata. Ko te rua tuatahi puta i roto i te DNA, kei nei i roto i te karihi pūtau, a ka whai te maha momo:

take o

To tatou ira ahu ki te rokiroki i ngā mōhiohio e kore anake, engari ano hoki ki te huri i te reira, whiwhi huru maitatai hou. Ko te irakētanga tenei. tupu te reira i uaua, e pā ana ki 1 te wa ia miriona take me te tuku ki uri, ki te puta i roto i te pūtau iroriki. Hoki kotahi auau ira irakētanga ko 1: 108.

Irakētanga e he tukanga māori, me te hanga i te pūtake o te rerekētanga whanaketanga o taata ora katoa. Ka taea e waiho ratou āwhina, me te kino. tauturu i ētahi tatou ki pai urutau ki te taiao, me te ara o te ora (hei tauira, te ātete ki te koromatua), ētahi atu arahi ki te mate.

Ko te takanga o abnormalities i roto i te ira tere ake te tinana, matū me te koiora āhuatanga mutagenic. nohoia ana tēnei taonga ko etahi pāhare, pūhau, nitrites, etahi tāpiritanga kai, patukīrea, ngā whakarewa me ngā hua hinu.

I roto i te āhuatanga tinana e ionizing me radiation iraruke, hihi katinga, rawa pāmahana tiketike, me te iti. Ka rite ki take koiora ko te huaketo kōpukupuku, karawaka antigens, a na i runga i. D.

predisposition ira

whakaawe ngā mātua tatou ki te mātauranga e kore anake. Kei te mohiotia te reira e te tahi iwi i te whai wāhi nui o te takanga o te tahi mau mate atu i ētahi atu hoki o te whakapapa. predisposition ira ki te mate puta ka te tangata i te utuafare ko te takahi i roto i te ira.

Ko te mōrea o te mate ngā i roto i te tamaiti tei runga i tona ranei tona sex, no te mea kei te tuku etahi mate anake i runga i tetahi raina. Te reira i tei hoki i runga i te iwi tangata, me i te tohu o te whanaungatanga ki te manawanui.

Ki te whanau tetahi tangata e ki te irakētanga o te tamaiti, na te tupono noa o te tuku i te mate, ko te 50%. Gene kore pai kia whakaatu ano i roto i tetahi ara, he ngoikore, pera i roto i te take o te faaipoiporaa ki te tangata hauora, tona tupono o haere kia ake uri ki runga 25%. Heoi, ki te mea ka mau ano hoki te hoa faaipoipo i te taua ira ngoikore, nga tūponotanga o ona faaiteraa i roto i te uri ki te whakapiki ake i ano ki te 50%.

Me pēhea te ki te tautuhi i mate?

Time ki te kitea te mate predisposition ki te āwhina Genetics Centre ranei. Tikanga, pera kei roto i nga pa nui katoa. I mua tetahi tātaritanga o te kōrero ki tō tākuta, ki te kitea i roto i te mea e kitea raruraru hauora i roto i whanaunga.

whakahaere rangahau Medical me ira e tango i te tauira toto. Kei te āta ako i te tauira i roto i te taiwhanga mo tetahi abnormalities. mau metua teuteu te tikanga haere taua kōrero i muri i te hapūtanga. Heoi, kia haere mai te pokapū iranga, me te i roto i tona whakamahere.

mate tuku tino pā te hauora hinengaro, me te tinana o te tamaiti, pā tümanako ora. He uaua ki te hamani te nuinga o ratou, ka whakaritea to ratou whakaatu e anake e tikanga hauora. Na reira, ki te faaineine i pai mo te tamaiti pēnei i mua i haputanga.

syndrome o Raro

Ko tētahi o nga mate ira tino noa - Down syndrome. puta te reira i roto i 13 take i roto o 10000. Ko te Pākatokato, i roto i nei i te tangata he 46, me 47 pūira tenei. Tātari taea te syndrome e tonu i whanau.

I roto i nga tohu matua o te mata papatahi, whakaarahia koki o te kanohi, he kaki poto me te kore o te reo uaua. Taringa e te nuinga o kanohi kokoti iti matahao, āhua kōhikohiko o te angaanga.

Tūroro tamariki i disorders comorbid me mate - kakā, te mahaha, me ētahi atu kia wheako koe exacerbations, pērā i mate o te rongo, titiro, hypothyroidism, mate ngakau ... A, no te pakanga daunizm whanaketanga hinengaro te iho, me te maha tonu i te taumata o e whitu nga tau.

mahi tamau, mahi motuhake me te taka nui te whakapai ake i te āhuatanga. He maha ngā take o te iwi ki te syndrome rite kia pai i ki te ora takitahi, kitea mahi, me te whai angitu ngaio tutuki.

hemophilia

He mate onge riro e pā tangata. kotahi puta te reira i roto i 10,000 take. e kore te Hemophilia tukinotia me te panga o i huringa i roto i te ira kotahi i roto i te pūira X fakasekisualé. Women he kawe anake o te mate.

Ko te āhuatanga matua ko te kore o te pūmua, i te kawenga mō te upoo- toto. I roto i tenei take, ara te whētuki iti ai toto e kore e e mutu tika. I te tahi taime faaite te reira iho anake i te ra i muri i te wharanga.

British Koroleva Viktoriya ko te kawe o te hemophilia. haere ia i te mate ki he tokomaha o ana uri, tae atu i te Tsarevich Alexei - te tama a Tsar Nicholas II. Nā ki haere mai tona mate e huaina ki "kingi" ranei "Victorian".

syndrome Angelman

Kei te maha i huaina te mate te "syndrome o tamapua hari" ranei "syndrome Petrushka", mai i tūroro i te matekai me auau o te kata me te ataata, nekehanga huru o te ringa. A, no te āhuatanga tenei Pākatokato e ngangau moe me te whanaketanga hinengaro.

puta Syndrome kotahi ia 10 000 take e tika ana ki te kore o te maha ira i te ringa roa o te pūira 15. whakawhanake mate Angelman anake, ki te kahore he ira i roto i te pūira, riro i tona whaea. A, no te he mea motu ke i roto i te pūira pāpā te taua ira, i reira he Prader-Monika syndrome.

e kore e taea te ora rawa te mate, engari kia atawhai tohumate. Ki te mahi i tenei, whakahaere maimoatanga tinana me massages. Fully motuhake, e kore e tūroro whiwhi, engari ka taea e te maimoatanga tiaki o ratou.