Karin chromosome a cikin mutane. chromosomal munanan

A jikin mutum - shi ne wani hadadden hadaddiyar tsarin, wanda aiki a matakai daban-daban. Don gabobin da Kwayoyin zai iya aiki a lokacin da ya dace, a takamaiman biochemical matakai dole ne ya unsa wasu abubuwa. Wannan na bukatar wani m tushe, da cewa shi ne, daidai watsa daga cikin kwayoyin code. Shi ne muhimmi a kayyade kayan iko da ci gaban da tayi.

Duk da haka, kwayoyin bayanai canje-canje wani lokacin faruwa wanda ya bayyana a cikin manyan ƙungiyoyi ko da lãbãri a gare mutum genes. Irin wannan kurakurai ake kira maye gurbi kwayoyin halitta. A wasu lokuta, wannan matsala da aka alaka da tsarin raka'a Kwayoyin, da cewa shi ne dukan chromosomes. Haka kuma, a cikin wannan yanayin, da kuskure ne ake kira chromosome maye gurbi.

Kowane mutum cell kullum ƙunshi wannan yawan chromosomes. Suna sõyayya da wannan genes. The cikakken sa na 23 nau'i-nau'i daga chromosomes, amma kasa da sau 2 a cikin jam sel. Wannan shi ne saboda gaskiyar cewa a hadi fe daga maniyyi da kwai Kwayoyin kamata wakiltar cikakken hade da dukan zama dole genes. Su rarraba ba bazuwa, kuma a tsananin wasu oda, tare da mikakke jerin ne daidai da wannan domin dukan mutane.

Chromosomal maye gurbi da taimako zuwa wani canji a da lambar kuma tsarin. Kamar haka, akwai iya zama karin chromosome ko, conversely, su za a rasa. Wannan rashin daidaituwa iya haifar da zubar da ciki ko taimakawa wajen bayyanar chromosomal cuta.

Iri chromosomes da su munanan

Chromosome - wani m kayyade bayanai a cikin cell. Yana wakiltar sau biyu cikin jigidar halittar DNA a hadaddun da histones. Ulla faruwa a prophase chromosomes (for cell division lokaci). Duk da haka, a lokacin da metaphase su sauki ga karatu. Chromosomes an hada da biyu chromatids cewa an haɗa farko constriction located a cell ekweita. Primary constriction raba chromosome 2 mãkirci guda ko daban-daban tsawo.

Wadannan iri chromosomes:

• metacentric - tare da makamai na daidaita tsawon;
• submetacentric - tare da makamai na unequal tsawon;
• acrocentric (sanda) - daya takaice da kuma sauran dogon kafadu.

Anomalies ne in mun gwada manyan da kananan. Binciken hanyoyin bambanta dangane da saitin. Wasu gano tare da wani microscope ba zai yiwu. A irin haka ne, amfani da wani bambanci batawa hanya, amma a lokacin da abin ya shafa da rabo da aka lasafta a miliyoyin nucleotides. Kawai ta kafa nucleotide jerin iya gane kananan maye gurbi. A ya fi girma keta haifar da wani pronounced sakamako a kan jikin mutum.

A cikin rashi na daya chromosome abnormality kira monosomy. Karin chromosome a cikin jiki - trisomy.

chromosomal cututtuka

Chromosomal cututtuka - kwayoyin cututtuka da cewa faruwa a sakamakon chromosomal abnormality. Sun bayyana saboda canje-canje a cikin yawan chromosomes ko manyan rearrangements

Lokacin da magani, amma har yanzu na yanzu matakin na ci gaba, aka yi imani da cewa mutum yana da 48 chromosomes. Shi ne kawai a 1956, suka gudanar da daidai lissafi lissafa da kuma gano dangantaka tsakanin warwarewarsu da yawan chromosomes da kuma wasu hereditary cututtuka.

3 Bayan shekaru, Faransa masanin kimiyya J. Lejeune, an gano cewa, da take hakkin mutanen da shafi tunanin mutum ci gaba da kuma juriya ga kamuwa da cuta ne kai tsaye alaka da ilimin kwayoyin hali maye gurbi. A game da wani karin chromosome 21. Ta yana daya daga cikin mafi karami, amma shi ne mai karfi a manyan yawan kwayoyin halittu. Karin chromosome aka lura a 1 daga 1,000 jarirai. Wannan chromosomal cuta ne da nisa mafi karatu da aka sani da Down ciwo.

Har ila yau, a shekarar 1959, an yi karatu da kuma tabbatar da cewa gaban namiji karin X chromosome take kaiwa zuwa Klinefelter ta cuta a cikin abin da wani mutum ne yake shan wahala daga shafi tunanin mutum retardation da kuma rasa haihuwa.

Duk da haka, duk da cewa chromosomal munanan suna lura da karatu na dogon lokaci, har ma zamani magani ba zai iya yi wa kwayoyin cututtuka. Amma wajen sabunta hanyoyin hanyoyin da ganewar asali irin maye gurbi.

Sanadin wani karin chromosome

A anomaly ne kawai dalilin da zargin chromosome 47 maimakon na 46. Masana a fannin magani da aka tabbatar da cewa primary hanyar wani karin chromosome - da shekaru expectant uwa. Da mazan da ciki, da girma da alama na nondisjunction. Just for wannan dalili, mata rika ba da haihuwa zuwa shekara 35. A hali na ciki bayan farko na wannan zamani ya kamata a yi kariya.

Irin abubuwan dake kawo zuwa fitowan da wani karin chromosome, sun hada da matakin da anomalies ya karu a cikin dukan duniya, da mataki na gurbacewar muhalli, da kuma more.

An yi imani da cewa karin chromosome auku idan kun kasance a cikin wani irin irin wannan lokuta. Wannan kawai wani labari: karatu sun nuna cewa iyaye wanda yara wahala daga chromosomal cututtuka ne daidai da lafiya karyotype.

Ganewar asali da ziyartar wani yaro da chromosomal abnormality

Yarda da take hakki na chromosomes, kira aneuploidy nunawa, gano tayi rashi ko ragi na chromosomes. Mata masu ciki da girmi shekaru 35 ya kamata sha da hanya da samun wani samfurin na ruwar. Idan muka sami wani take hakkin da karyotype, expectant uwa za bukatar žare ciki, kamar yadda da ta haifi jaririn dukan rai zai sha wahala mai tsanani cuta ba tare da wani tasiri magani.

Take hakkin chromosomes kullum yana mai juna biyu asalin, duk da haka ya kamata bincika ba kawai fetal Kwayoyin, amma kuma abubuwa da ake kafa a lokacin ripening. Wannan hanya da aka kira da ganewar asali daga kwayoyin cuta na iyakacin duniya jiki.

Down ta ciwo

Masana kimiyya na farko da aka bayyana mongol ne Down. Karin chromosome, cutar genes a gaban wanda ake bukata don ci gaba, da aka yi karatu a baje. Lokacin da mongol ya auku a kan chromosome 21 trisomy. Wannan shi ne wani rashin lafiya mutum maimakon na 46 ya jũya 47 chromosomes. Babban alama - da fada bayan a ci gaba.

Yara da suke yi gaban wani karin chromosome aka lura, da fuskantar munanan matsaloli koyo abu a makarantu, saboda haka suna bukatar wani madadin Hanyar koyo. Bugu da kari ya shafi tunanin mutum, akwai wani sabawa, da kuma ta jiki ci gaba, wato: slanting idanu, lebur fuska, m lebe da harshe lebur, taqaitaccen ko mika wata gabar jiki da ƙafafuna, wani babban taro da fata a cikin wuyansa yankin. Rayuwa Hasashen kan talakawan shi ne shekaru 50.

Patau ciwo

Yana kuma da dangantaka trisomy Patau ciwo, a cikin abin da akwai uku kofe na chromosome 13. A rarrabe ne rushewa daga cikin tsakiya m tsarin ko ta underdevelopment. Marasa lafiya suna lura da mahara malformations, ciki har da zai yiwu nakasar cututtuka na zuciya. Fiye da 90% na mutanen da suke tare da ciwo na Patau mutu a cikin shekarar farko ta rayuwa.

Edwards ciwo

Wannan anomaly, kamar baya wadanda, yana nufin trisomy. A wannan yanayin da muke magana ne game da 18th chromosome. Edwards ciwo ne halin da daban-daban cuta. Amma, marasa lafiya nuna kashi nakasawa, da sauya siffar kwanyar, da matsaloli tare da numfashi, kuma zuciya da jijiyoyin jini tsarin. Rayuwa Hasashen ne yawanci game da watanni 3, amma wasu jariran tsira har zuwa wani shekara.

Endocrine cututtuka da chromosomal munanan

Bugu da kari a wadannan syndromes, chromosomal munanan, akwai wasu a cikin abin da akwai ma na lamba da kuma tsarin anomaly. Irin cututtuka sun hada da:

1. Triploids - a rare chromosome cuta a cikin abin da modal lambar ne 69. Pregnancy yawanci ƙare farkon ashara, amma rayuwa na yaro ba ya rayuwa fiye da 5 months, akwai mutane da yawa haihuwa lahani.
2. Wolf-Hirschhorn ciwo - shi ne ma daya daga cikin rare chromosomal munanan, wanda tasowa saboda da shafewa na distal ƙarshen short hannu na chromosome. A m yanki na wannan cuta ne 16,3 a kan chromosome 4p. Hankula cututtuka - matsaloli a ci gaba, ci gaban retardation, seizures, kuma hankula fuska siffofin
3. Prader-Karin ciwo - cutar ne sosai rare. A lokacin da irin anomalous chromosome 7 genes ko sassa na 15 na uba chromosome ba aiki, ko a share. Tags: scoliosis, strabismus, jinkiri jiki da kuma ilimi ci gaba, gajiya.

Yadda tada wani yaro da chromosomal cuta?

Don ta da wani yaro da nakasar chromosomal cuta ba sauki. Domin sa rayuwarka sauki, wasu sharudda dole a bi. Da fari dai, ya kamata a nan da nan shawo kan yanke ƙauna kuma ya ji tsõro. Na biyu, ba ka bukatar ka ciyar lokaci neman m, shi ba ya wanzu. Abu na uku, shi ne muhimmanci a yanke shawara a kan irin taimakon da ake bukata ga yaro da kuma iyali, sa'an nan ta juya zuwa kwararru na likita, m da kuma ilimi taimako.

A shekara ta fari ta rayuwa da ganewar asali ne musamman muhimmanci, a matsayin mota aiki ne ci gaba a wannan lokaci. Da taimakon kwararru a yaro da sauri saya mota skills. Wajibi ne a ma'ana bincika baby a Pathology na gani da mai ji. Har ila yau, da yaro ya kamata a gani kafin a pediatrician, endocrinologist da neuropsychiatrist.

Iyaye suna karfafa wa shiga cikin wani musamman jam'iyya samun muhimmanci da m shawara daga mutãnen nan waɗanda suka shawo kan wannan halin da ake ciki kuma suna shirye su raba.

Media karin chromosome kullum m, yin shi da sauki tada, da kuma ya zama ta fi lashe yardar fara tasawa. A matakin na ci gaba musamman baby zai dogara ne a kan yadda wuya zai kasance domin ya koyar da asali basira. Marasa lafiya yara, ko lagging a baya da wasu, amma su bukatar mai yawa da hankali. Yana da kullum dole a karfafa yaro ta samu 'yancin kai. Kai sanar da yadda za su kasance da misali, sa'an nan sakamakon ba zai jira dogon.

Yara da chromosomal cuta suna dauke da musamman talanti wanda aka bayyana. Yana iya zama music darussa ko zane. Yana da muhimmanci wajen samar da your baby, wasa aiki wasanni da bunkasa motor basira, karanta, kuma saba da tsarin mulki da kuma daidaito. Idan yaro ya bayyana duk ta so, kulawa, da hankali da kuma so, zai amsa a irin.

Shin, akwai wani mai magani?

Don kwanan wata, cutar ba za a iya warke chromosome. Kowane samarwa Hanyar ne gwaji, amma su na asibiti inganci ba a tabbatar. Make ci gaba a ci gaba da socialization kuma saye da basira taimaka din kiwon lafiya da kuma ilimi taimako.

The rashin lafiya yaro dole ne a kowane lokaci a gani da kwararru a matsayin magani zo zuwa ga matakin a wanda yake iya samar da zama dole kayan aiki da kuma daban-daban iri far. Malamai ma nema zamani fuskanci a cikin koyarwa da kuma fi na yaro.