Aneuploidy - a ... Aneuploidy: description, Yanã, cututtuka, da kuma musamman nau'i na magani

Aneuploidy - a kayyade cuta a cikin abin da jiki ta Kwayoyin dauke da wani mahaukaci yawan chromosomes. Don ƙarin koyo game da yadda za a bayyana aneuploidy da kuma abin da suke ta haddasawa, a takaice bincika tsarin kwayar halitta mai rai, da cell tsakiya da kuma chromosomes kansu.

A bit da ka'idar

Kamar yadda ka sani, a kowane somatic cell na jikin mutum ne na al'ada 46 chromosomes, cewa shi ne diploid. Kawai a cikin jam sel, wannan guda tari. Chromosomes suna located a cikin cell tsakiya da kuma masu tsawo, skompaktizovannuyu DNA Helix. DNA, bi da bi, aka yi sama da monomers - polypeptides. Wasu polypeptide jerin buga gene - tsarin naúrar na gadar hali. DNA ƙunshi dukkan kwayoyin shirin na ci gaba da kwayoyin.

A nonsexual Kwayoyin kowane chromosome ne homologue yar'uwarsa chromosomes sosai irin wannan, amma ba m zuwa na farko. A lokacin meiosis da chromosomes musanya sassan. Wannan sabon abu ne da ake kira "crossover." A ware chromosome tsawo da kuma gajeren makamai.

chromosome sa

Saita na chromosomes na kwayoyin da aka kira wani karyotype. Yadda aka saba, a mutum, kamar yadda aka ce, da karyotype da aka gabatar 46 chromosomes, 23 daga kowane iyaye, amma ba su samu wani anomaly a cikin abin da karyotype aka wakilta daban. Wannan take hakkin da ake kira "aneuploidy".

Aneuploidy - wani irin karyotype a cikin abin da yawan chromosomes ba daidai yake da al'ada. Aneuploidy na chromosomes, wanda ba a chromosome aka kira monosomy. Idan akwai wani tururi - nullisomiey. Idan, maimakon na al'ada biyu daga homologue chromosomes a karyotype bayyana uku homologue, wannan trisomy. Duk wani canji a cikin adadin chromosomes sa mai tsanani raya ci gaban cuta. Wasu daga cikin su zama m.

Aneuploidy nonsexual chromosomes (autosomes)

Akwai da yawa kwayoyin cututtuka da sa shi aneuploidy. Misalan irin cututtuka - Down ta ciwo, Patau ciwo, Edwards Syndrome. Duk wadannan cututtuka suna lalacewa ta hanyar gaban wani karin chromosome a daban-daban nau'i-nau'i daga homologue. Down ciwo - ya fi na kowa daga cikin wadannan cututtuka. Yana bayyana kanta shafi tunanin mutum retardation, hargitsa sadarwa, koyan matsaloli.

Duk da haka, trisomy na chromosome 21, wanda ya haddasa cutar, yana da wani sakamako a kan rayuwar jama'a. Azuzuwan a kan takamaiman dabaru iya taimaka marasa lafiya cimma wasu nasara a koyo da kuma socialization.

Wani cuta, Patau ciwo, kuma Yanã aneuploidy. Wannan tsanani take hakki - sakamakon trisomy na 13th chromosome. Marasa lafiya da wuya tsira zuwa shekaru 10, fiye da 80% mutu a shekara ta fari ta rayuwa, wasu wahala daga mai tsanani shafi tunanin mutum retardation. A yara da Patau ciwo bayyana microcephaly, sau da yawa da zuciya matsaloli, corneal clouding, tsaga palate, kunnuwa da ɗan maras kyau.

Babban dalilin da da ciwo Edwards ne ma aneuploidy - trisomy na chromosome 18. Fiye da 90% na yara tare da wannan cuta mutu daga zuciya rashin cin nasara a cikin shekarar farko na rayuwa, wasu wahala daga mai tsanani shafi tunanin mutum retardation kuma kusan uneducable.

Trisomy 16 chromosome ne fiye da na kowa fiye da wani aneuploidy. Wannan kwayoyin cuta ne na mutuwa ne, tayin zai mutu a cikin mahaifa, a lokacin farko da watanni uku na biyu a ciki.

Aneuploidy a cikin mutane na iya bayyana a rare kwayoyin cuta - Varkani ciwo, trisomy na chromosome 8. Babban bayyanar cututtuka - shafi tunanin mutum retardation, zuciya lahani, kwarangwal anomalies.

Aneuploidy na jima'i chromosomes

Irin aneuploidy, wanda ba ko da yaushe kai ga tsanani sakamakon - for trisomy X chromosome. Irin wannan take hakkin ne kawai ga mata. Trisomy X-chromosome ne in mun gwada m - at 0.1% na mata. A cuta na iya ba bayyana cikin rayuwa, wanda ya auku a game da 30% na lokuta. Ga sauran 70% ban sha'awa shi ne halin da wadannan cututtuka: dyslexia, agraphia, magana, kuma motsi cuta. Amfani a irin haka ne, symptomatic magani ne sosai tasiri da kuma taimaka wajen kaucewa ko partially kawar da wadannan cututtuka.

Sauran anomalies hade da yawan jima'i chromosomes, ne mafi tsanani. Wadannan sun hada da Shereshevskoro ciwo - Turner, musamman idan akwai aneuploidy, a cikin abin da a karyotype mata - daya kawai X chromosome maimakon na al'ada biyu. Alamun - shafi tunanin mutum retardation, short jiki, illa ci gaba da al'aura gabobin iya zama wani m nau'i na shafi tunanin mutum retardation.

Akwai wani tsanani cuta, wadda ana sa ta aneuploidy. Yana Klinefelter ciwo - gaban daya ko fiye karin X ko Y chromosomes a cikin maza. Alamun ba bayyana har farkon lokacin balaga. Kusan rabin na marasa lafiya basu da cututtuka cikin rayukansu, yayin da wasu lura gynecomastia, kiba, rashin haihuwa. A rare lokuta, akwai shafi tunanin mutum retardation.

A Sanadin aneuploidy

Aneuploidy faruwa saboda gaskiyar cewa a lokacin meiosis da homologue chromosomes ba raba up, da kuma maimakon daya a cikin gamete buga wani biyu daga chromosomes, ko bai samu ba. Idan wani gamete al'ada yawan chromosomes, da sauran - da mahaukaci, da mahaukaci karyotype zygote so.

M homologue chromosomes iya zama saboda ya fi karfinsu muhalli yanayi, daukan hotuna zuwa gubobi daga daban-daban yanayi. Amma sau da yawa dalilin ne gadar hali: a cikin iyalai inda a can sun kasance lokuta na aneuploidy, hadarin da ciwon yaro da wani mahaukaci karyotype ne mafi girma fiye da na lafiya iyaye.

mita

Za mu iya cewa ainihin hadarin na chromosomal aneuploidy-cuta a kan talakawan ne low, tun duk kwayoyin cututtuka suna classified kamar yadda rare. A] aukacin yiwuwar ciwon yaro da wani abnormality karyotype bar 5% idan iyaye biyu ne m. Idan iyaye daya tana da wani mahaukaci karyotype, yiwuwar samun wani rashin lafiya yaro haihuwa ƙaruwa.

aneuploidies mita dogara a kan chromosome. Mafi na kowa abnormality karyotype - Klinefelter ta ciwo, chromosome aneuploidy jima'i, mita na 1 a cikin 500 jariri boys, mafi m - Varkani ciwo, aneuploidy na chromosome 8, da mita daga 1:50 000.

magani

aneuploidies magani ne ko da yaushe symptomatic. Lokacin da Shereshevscky ciwo - Turner ya ce low girma da kuma wani rashin mace jima'i ji ba gani, domin da magani amfani anabolic steroids.

Down ta ciwo magani an rage wa karatun da marasa lafiya da musamman shirye-shirye da nufin ci gaban da fahimi damar iya yin komai.

Marasa lafiya da ciwo Varkani wuya rayu har zuwa shekaru 20. A tsawon lokaci, sabon ilimin Halittar Jiki canje-canje, m shafi tunanin mutum retardation. Idan dole, makõma zuwa tiyata don gyara yanayin da magani na kashin baya contractures.

Idan 'yan mata da trisomy X-chromosome akwai wani bata lokaci ba na magana ci gaba, na iya bukatar tuntubar wani jawabin ilimin. A hali na matsalolin da rubuce-rubuce da kuma karatu ya kamata ga wani gwani dyslexia.

Klinefelter ciwo ba ko da yaushe shafi ingancin rayuwa ga marasa lafiya. A rare lokuta, akwai shafi tunanin mutum retardation. Dangane da digiri (m, matsakaici, m), wani mutum shirin na binciken. Idan bayyananne gynecomastia, rage jima'i aiki, rashin haihuwa, sa'an nan koma ga hormone far.

bincikowa da

Gano fetal kwayoyin cututtuka za a iya yin amfani da dama hanyoyin (duban dan tayi jarrabawa, biochemical alamomi Hanyar).

Da taimakon duban dan tayi iya bayyana tayin Down ta ciwo a wani wuri mataki na ci gaba.

Non-cin zali prenatal ganewar asali aneuploidy ne mai hadari, kuma m Hanyar kayyade yiwu karyotype munanan. A Hanyar ne mai sauki - gwani na bincika DNA da wani ɓaɓɓake daga wani yaro a cikin uwa tasa ta jini. Masu cin zali ganewar asali aneuploidy ne mafi m, amma shi daukawa hadarin maras wata-wata zubar da ciki, ta zama makõma ga shi kawai a cikin matsanancin.

Abubuwan da ƙara da alama na aneuploidy

Recent binciken da tabbatar da cewa akwai wani tabbataccen hulda a tsakanin masu juna biyu da haihuwa da kuma yiwuwar samun ciwon yaro da Down ciwo, ciwo Patau ta ciwo ko Edwards. Da mazan da mace, da hakan yiwuwar haihuwar ta yaro da wani mahaukaci karyotype.

Abin da dalilai taka muhimmiyar rawa a ci gaban aneuploidy jima'i chromosomes ne ba a sani ba. An zaci cewa muhimmiyar rawa a irin wannan hali nasa ne gadar hali.