Chromosomes, Trisomy Types, Abune, da Down Ciwo
Down syndrome ne ya haifar da karin lamba 21 chromosome, amma menene wannan yana nufin? Mene ne yake haifar da ƙananan chromosome? Za a gaji ciwo na Down? Don fahimtar abin da ke haifar da ciwo na Down, kana buƙatar samun cikakken fahimtar abin da chromosomes suke, da abin da suke yi. Ƙin fahimtar jinsin Down syndrome yana da kalubalanci, duk da haka karɓar lokacin da za a gwada wannan bayanin zai iya tabbatar da iyayen da ke da damuwa a lokacin da suke ciki, da kuma iyaye waɗanda ke da ƙananan ciwon Down syndrome wadanda suke tambayar kansu cewa tambaya mai wuya: "Me ya sa?"
Sanin Genetics
Packages of Genetic Information
Hanyar da ta fi dacewa wajen tunani akan chromosomes shine asali na bayanan kwayoyin. Jikin jikin mutum yana da nau'i daban-daban na kwayoyin halitta da kuma cikin kowane ɗayan waɗannan kwayoyin halitta, a tsakiya, su ne kwayoyinmu. Manoma su ne rabon gādon da aka shige daga wannan ƙarni zuwa wani. Suna a cikin kowane kwayar jikinsu kuma suna bada umarnin ga kowane tsarin da aikin jikinmu. Mutane suna da kimanin nau'in kwayoyin halittu 25,000. Maimakon samun dukkanin mutane 25,000 a cikin kwayoyin halitta a kowanne ɗayan, jinsunanmu suna samuwa ko kuma an saka su akan chromosomes maimakon kamar lu'u-lu'u a kan abun wuya.
Yan Adam
An halicci mutane daga DNA wanda shine kwayoyin da ke dauke da nau'ikan sunadarai guda hudu da ake kira dakalansu, waɗanda yawancin su ke kira su-A don adenine, T don kamine, G don guanine da C don kwayar cutar. Wadannan wurare guda 4 sun hada da "lambar jinsin" - irin nau'in haruffa.
Jinsin suna da kananan sassan DNA kuma waɗannan kwayoyin suna samuwa a kan chromosomes. Idan kayi la'akari da asibiti kamar haruffa, to, ana iya tunanin kwayoyin kamar kalmomin. Kowane jumla (ko gene) ya ba da takamaiman umarni ga jikinmu. Daya daga cikin jinsin zai iya bayyana abin da idanunmu za su kasance yayin da wani hade da kwayoyin halitta zai iya nuna yadda kananan yatsanmu ya kamata!
Lokacin da masana kimiyya ke so su koma ga dukkanin kwayoyinmu tare, suna kira shi "genome."
Chromosomes
Chromosomes, kazalika da jinsin da ke kan su, zo nau'i-nau'i. Mutane suna da cikakkun nau'ikan kwarya 46 da aka shirya cikin nau'i-nau'i 23. Na farko 22 nau'i na chromosomes an kira " autosomes " kuma an ƙidaya su 1 zuwa 22, daga mafi girma zuwa mafi ƙanƙanci. An kira nau'in na ashirin da biyu " chromosomes na jima'i " kuma sun hada da X da Y a cikin maza da X-chromosomes biyu a cikin mata. Ana iya ganin Chromosomes a karkashin wani microscope amma nau'in mutum wanda yake kan su ba zai iya ba. Jarabawar da ta ba da damar ganin chromosomes (da kididdiga) shine jarrabawar karyotype ,
Trisomy
Yawancin mutane suna da 46 chromosomes ko 23 nau'i-nau'i na chromosomes. Mutanen da ke ciwo da ƙananan ciwon ƙwayar cuta suna da karin karin lamba 21 na kwakwalwa don kimanin 47 chromosomes. Wannan yanayin ana kiransa " Trisomy 21. " Trisomy ya fito daga kalmar Latin "tri" wanda ke nufin uku da "wasu" wanda ke nufin jiki kuma yana nufin chromosomes. Mutanen da ke da ƙwayar cuta 21 suna da jiki uku, 21 ko uku na 21 chromosomes.
Saboda chromosomes sune kunshe na bayanin kwayoyin halitta kuma sun ƙunshi dukan kwayoyinmu ko umarninmu, mutanen da ke ɗauke da Down syndrome suna da nau'i uku na dukan jinsin da ke kan chromosome 21.
An kiyasta cewa akwai kwayoyi 400 a kan ƙwayoyin cuta 21. Saboda haka, mutanen da ke da Down syndrome suna da karin umarnin 400. Duk da yake yana da karin umarnin sauti kamar shi ya kamata ya zama mai kyau abu, shi ne ainihin kamar ƙara karin sinadaran zuwa girke-girke. Za ku ci gaba da samun tamanin asali (jikin mutum) amma nau'i da aiki na daban.
Bugu da ƙari, gajiyar jiki 21, akwai wasu burbushin mutum . Down syndrome, ko tisomy 21 shi ne mafi yawan na kowa autosomal trisomy, amma jariran da trisomy 13 (Patau cuta) da kuma trisomy 18 (Edward's syndrome) na iya zama wani lokaci tsira da ciki. Rayuwar rai ga yara tare da waɗannan ƙwayoyin cuta ba su da dangantaka da Down syndrome.
Tunawa tare da ƙwayar cuta 15, 16, da kuma 22 yawanci yana ƙarewa cikin ɓarna. Trisomies a cikin sauran chromosomes suna da wuya a gani kuma yawanci sukan ƙare ne a farkon tashin ciki kafin a yi kimantawa.
Jima'i na kwakwalwa da ke dauke da kwayoyin X da Y suna da yawa, misali, cutar ta Klinefelter (XXY) an kiyasta zai shafi 1 a 1000 maza.
Ya bambanta da tisomies, wasu cututtuka na nakasar chromosome a jarirai ne saboda yawan ƙananan chromosomes, 'ƙarancin jiki'. Misali shi ne ciwo na Turner wanda aka rasa jima'i na chromosome, 45 X0 ko tsaunin X.
Dalilin Trisomy
Trisomy ga wani ƙananan chromosome shine sakamakon rashin daidaituwa a cikin kwayar ko yarinya kafin ɗaukar hoto. Hakanan haɗin ƙananan layi ne kuma an rabu da juna a lokacin rarraba. Tare da tisomies, duka chromosomes je zuwa daya kwai, don haka fiye da lokacin da aka hade shi tare da maniyyi (lokacin da kwai da maniyyi suka haɗu), akwai uku.
Babu wani abu da kowa zai iya yi don hana yatsin zuciya, kuma babu wani abin da wani zai iya yi don ya haifar dashi. Wannan abu ne na bala'i wanda ya faru kafin zuwan (a cikin cikakkun trisomy) a cikin ko dai kwai ko sperm. Ba mu san abin da yake haifar da wani abu ba, ko da yake mun san wasu matsalolin da ke haifar da hadari na wannan faruwa.
Nau'in Trisomy 21
Akwai nau'o'i daban-daban daban daban uku:
Cikakken Trisomy 21 - Cikakken ƙwayar cuta 21 yana da alhakin kashi 95 bisa dari na Down syndrome. Kamar yadda muka gani a sama, lokacin da chromosomes ke rabuwa (don ƙirƙirar qwai ko jini a cikin tsarin da ake kira "meiosis"), maimakon guda biyu da suka raba su zuwa qwai daban-daban, duka chromosomes sun je kwai daya kuma babu chromosomes su je zuwa wancan. An kira wannan ba tare da haɗa kai ba.
Tsarin gwiwar juyin juya hali 21 - Tsarin juyi na jiki yana faruwa a kashi hudu cikin dari na jarirai tare da Down syndrome. A cikin fassarar akwai nau'o'i guda biyu na chromosome 21, amma karin abu daga na uku na 21st chromosome an haɗe shi (an koma zuwa) wani chromosome. Irin wannan ciwo na Down zai iya faruwa a gaban ko bayan zane, kuma shine nau'i wanda wani lokaci zai iya sauka (gadon).
Tashin hankali na Mutum 21 - Mafi yawan ƙwayar Down syndrome, mosaic Down syndrome ya faru lokacin da kawai wasu kwayoyin suna da karin kwafin chromosome 21. Wannan nau'i na trisomy yakan faru bayan tsara, amma ba a san dalilin da ya sa yake faruwa ba. Ganin cewa mutane da cikakkun nau'ikan kwayoyi 21 da sassan su 21 suna kama da juna, nau'in mosaic trisomy 21 ya bambanta dangane da adadin kwayoyin da ke da ƙananan chromosome.
Za a Zama Cutar Ciwo?
Gaba ɗaya, Down syndrome ba 'gada' ba amma ana iya wucewa daga iyaye ga yara tare da fashewar jiki 21 (wanda ya kasance kusan kashi hudu cikin dari na mutanen da ke fama da Down syndrome.) A kusan kashi ɗaya cikin uku na mutanen da ke dauke da ƙwayar cuta 21, (biyu chromosome 21 da karin chromosome 21 da aka haɗe zuwa wani chromosome) an gaji daga iyaye.Idan hadarin mutum ya kasance tare da gyaran gyare-gyare mai wucewa akan yanayin da yaro ya kasance kimanin kashi 10 zuwa 15 cikin dari na mata da kashi uku cikin dari na maza.
Tun lokacin da aka sassaukar da ƙwayar cuta 21 kawai asusun kusan kimanin kashi hudu na mutanen da ke fama da Down syndrome, ba za a iya la'akari da kashi ɗaya daga cikin dari ba.
Idan yarinya ko babba tare da ciwo na Down ya yi ciki, haɗarin Down syndrome ko sauran ciwo na ci gaba a jaririn yana tsakanin 35 zuwa 50 bisa dari. Tun da mutane da yawa tare da Down syndrome na iya haifar da rayuwa mai kyau sosai, da kuma samun ƙauna da dangantaka kamar waɗanda ba tare da ciwo Down, wannan haɗari ne da ake buƙatar ɗaukar nauyin amfanin da iyayensu a cikin tunani. Kusan kashi 50 cikin dari na mata da ciwon Down yana iya yin ciki.
Dalili na Hadarin
Yawancin iyaye wadanda ke da ƙananan yara tare da Down syndrome ba su da wani halayen haɗari. Yana da mahimmanci a lura cewa, a yau, babu salon rayuwa ko abubuwan haɗarin muhalli na Down syndrome . A wasu kalmomi, ba tare da karuwa tare da shekarun mata ba (kuma mafi yawan mata da ke da ƙananan yara tare da Down syndrome su ne matasa) babu wani abu da zai iya taimakawa hango hango ko kuma hana yarinya tare da Down syndrome.
Matsayin Matasa da Down Ciwo Ciwo
Duk da yake tisomies na iya faruwa a cikin mutane na kowane zamani, akwai ƙungiya tsakanin shekarar mahaifiyar da kuma damar samun jariri tare da tisomy. Ƙungiyar ita ce kawai kimiyya don hanyar haɗi. Ƙungiya ba wani abu bane. Wannan wani muhimmin mahimmanci ne, saboda yawancin mutane sukan kasance a cikin tunanin kuskure cewa shekarun haihuwar suna haifar da ciwo na Down. Wannan ba gaskiya bane. Ba mu san abin da ya sa trisomies ya faru ba. Mu dai mun sani cewa yayin da mata suka tsufa, haɗari na ciwon ciki tare da tarin jiki yana ƙaruwa.
Duk da yake akwai hanyar haɗi tsakanin shekarun juna biyu da kuma abin da ke faruwa na tisomies, yawancin jarirai tare da Down syndrome ana haifar da uwaye a ƙarƙashin shekaru 35. Wannan shi ne saboda gaskiyar cewa akwai mata da yawa da ke da jarirai. A gaskiya ma, kashi 80 cikin 100 na jariran da aka haifa tare da Down syndrome sun haifa ga mata masu shekaru 35 da kuma yawan shekarun da mahaifiyar jariri tare da Down syndrome ya kasance shekaru 28. Hakika, yiwuwar mace mai shekaru 30 da haihuwa ta haifi ɗa tare da Down syndrome ya kasa da 1: 1000. Rashin haɗari yana kara kamar yadda mace ta tsufa, tare da tasiri game da 1: 112 a shekara 40. Duk da haka, wannan har yanzu kasa da kashi ɗaya cikin dari na mata da suka yi ciki a shekara 40.
Hanya da ke kwatanta shekarun tsofaffi zuwa hadarin Down syndrome yana samuwa, amma yana da muhimmanci a kula da mata kafin su dubi wannan zane. Tabbatar ku tuna cewa yawancin matan da suke ciki a cikin shekaru 35 suna da jarirai ba tare da Down syndrome.
Wasu matan da ke da shekaru 35 (ko tare da wasu matsalolin haɗari) na iya zaɓar za su sami amniocentesis don allon ƙwayar Down syndrome ko wasu gwaje-gwaje na shiga. Tabbatar cewa ko wannan gwajin ko ko a'a ba shi da kwarewa, kuma ya kamata a yi tare da taimakon bada shawara na kwayoyin halitta. Kwalejin Kwalejin Kasuwanci na Amirka da Gynecology ya bada shawarar cewa dukkanin mata za a ba da gwaji don shiga Down syndrome. Wasu mata sun fi son yin wannan gwaji don tabbatarwa da kuma samun damar yin shirin gaba, yayin da akwai dalilai da yasa matan suka zabi kada suyi gwaji a ciki.
Rashin lafiyar tsofaffi da rashin ciwo
An kiyasta cewa karin ƙwayar cuta a Down syndrome ya fito ne daga mahaifiyar mafi yawan lokaci kuma daga mahaifinsa (kashi) kawai kashi hudu cikin lokaci kawai. Duk da yake ci gaba da haifar da tsofaffi yana haɗu da ƙananan ciwo na Down, wannan ba gaskiya ba ne don inganta shekarun tsofaffi saboda gaskiyar shekarun qwai, amma ana ci gaba da ciwon jini don su kasance kawai a cikin 'yan makonni kadan. Akwai, duk da haka, yanayin yanayi ba tare da Down syndrome wanda aka danganta da shekaru tsofaffi masu girma, irin su achondroplasia (dwarfism) da cutar Marfan.
Binciken da Gaban
Tare da maganganun game da Harkokin Dan Adam da kuma mahaifiyar mahaifa sun tambayi tambaya mai kyau: "Me ya sa ba za a iya amfani da farfadowa ba don gyara cutar rashin lafiya a Down syndrome?" Abin takaici, fahimtarmu game da kwayoyin halitta ba a can ba tukuna. Menene tsarin farfadowa na iya taimakawa tare da akalla a nan gaba, yana aiki tare da mahaukaciyar mahaifa. Yanayin da ya haifar da fiye da guda daya, ba tare da yakamata dukkanin chromosome zai zama da wuya a magance ta. Saboda haka masu bincike suna kallon abin da zai iya yiwuwa tare da epigenetic engineering-epigenetics filin ne wanda yake kallon kalma (bayyanuwar cututtuka) na kwayoyin maimakon jinsin kansu.
Wannan ya ce, kula da yara da aka haifa tare da Down syndrome ya cigaba da ƙaruwa a cikin 'yan shekarun da suka wuce.
Layin Ƙasa
Labaran shi ne cewa mun san cewa akwai hanyar haɗi ko ƙungiya tsakanin shekarar mahaifiyar da kuma hadari don samun yaro tare da ƙwayar cuta irin su Down's syndrome, amma babu wanda ya san ainihin dalilan trisomies.
Sources:
Dekker, A., De Deyn, P., da M. Rots. Hanyoyin Epigenetics: Maɓallin Zaɓuɓɓuka don Ya rage Ƙarawar Ilmantarwa da ƙwaƙwalwa a Down Down Syndrome. Neuroscience da Biobehavioral Reviews . 2914. 45: 72-84.
Mentis, A., Epigenomic Engineering for Down Synrome. Neuroscience da Biobehavioral Reviews . 2016. 71: 323-327.