Fragile X Syndrome: izimpawu, izimpawu kanye nokwelashwa lwemithi

Lamanje ukuthuthukiswa ngokushesha imithi uye wavumela isintu ukuba sizame ukuvula eziningi izifo ezazingaziwa. Okubaluleke ngokukhethekile ekhulwini lamashumi amabili kudlalwa ngokulotshiweyo isimiso sezakhi zofuzo, okwenza bakwazi ukuhlonza izimbangela kwezinso eziningi zofuzo chromosomal. Kunezinhlobo ezingaphezu kuka-3000 izifo ezihlobene izinguquko ambalwa kanye qualitative e izinhlayiya eziyisisekelo zofuzo. Isifo empeleni esasisesisha kuyinto Fragile X Syndrome, okuyinto has a iphesenti kahle eliphezulu yengane ukukhubazeka.

Martin Bella isifo - a syndrome noma sokuphazamiseka zezinzwa?

Fragile X Syndrome - angahlangani azalwa naso elihlobene ne-fragility we-X chromosome. Umqondo "fragility" libhekisela ukuvaleka abukhali sokuphela ezibukwayo we-X chromosome. Izinguquko ezinjalo, ngakho ukuqinisekisa Fragile X Syndrome. Izithombe izingane kwesokunxele kubonisa ukusalela ukuthuthukiswa lengqondo, okuyinto ivame ukuba netuthuko kusukela ingane isencane.

izizathu

Njengoba yaziwa, lo genotype womuntu KULUNGILE - kungcono Ama-chromosomes e-46, emibili yayo - X ocansini futhi Y. Ngo abesifazane, ngokulandelana, isethi chromosome izobukeka - 46 XX, futhi amadoda - 46 HU. Lezi abathwali ukwaziswa kwezakhi zofuzo siqukethe iketango acid acid ezinikezwa, okuyinto wabeka ulwazi mayelana nesakhiwo nemisebenzi ikusasa eziphilayo.

Ukugula Martin Bella (Fragile X-chromosome) eba ngenxa yezinguquko X chromosome, ngakho-ke kungase kube buhlungu kwabesifazane nabesilisa. Thinning ingxenye X- chromosome ngenxa ukwanda sokugembula kule ethize acid acid izinsalela of eziphindaphindiwe - cytosine-guanine-guanine (C-G-T). Lokhu inhlanganisela rep khona izikhathi eziningana kwamanye ufuzo, kodwa kubalulekile, eqinisweni, inani ezinikezwa. Ngokuvamile zokhahlamba kusuka 29 kuya 31. Endabeni Martin-Bell Syndrome ezifana nani okwanda kanye kungenzeka nazo kusuka izikhathi 230 kuya 4000, okuholela ekwandeni chromosome futhi isakhi ukusebenza ethize kahle - FMR1, okuyinto unesibopho ukusebenza efanele kanye nokuthuthukiswa sezinzwa uhlelo. Umphumela kubonakala emva kwesikhashana emva kokuzalwa futhi kubonakala lengqondo retardation.

ongakhetha ekhombisa

Isibalo ezinikezwa cytosine-guanine-guanine kubangela embodiments ezihlukahlukene ukugula emitholampilo Martin-Bell. Lesi sifo angase abe amafomu ezifihliwe. Uma ukuhlola okuthile kwembula eziphindaphindiwe 55 200, kukhona premutation - izinguquko umngcele ezenza umuntu othwala, kodwa ngaphandle kwezinguquko ebonakalayo isimiso sezinzwa. Ngo engu ovuthiwe futhi ubudala ingaqala syndrome ataxic futhi eyinhloko ukwehluleka wesibeletho kwabesifazane. Amathuba ukudluliswa sifo kuphezulu. Izimali nazo isimo Lesisemkhatsini - a nucleotide eziphindaphindiwe 40 kuya ku-60, lapho isifo wabonakaliswa hhayi ngofuzo ingavela ngaphakathi kwezizukulwane ezimbalwa.

Devolution

Ufuzo zinalesi sifo ukuze iqembu pathologies, ubulili-exhumene, okungukuthi, ne-X chromosome. In amadoda, lesi sifo kubonakala ngokucacile kakhulu, njengoba genotype yabo iqukethe okukodwa X chromosome. Abesifazane zokugula eba esimweni kokubili "sokugembula" X-autosomes. Kakhulu akuvamile, amadoda angaba premutatsionny inketho kanti nomgodla. Abesifazane kakhulu maningi amathuba okwenza ukulawula vector, nge pass "sokugembula" chromosome nge Amathuba alinganayo kokubili amadodakazi namadodana ngoba. uyise Sick bangadlulisela X-chromosome amadodakazi wodwa. Ifa syndrome kancane kancane kwandisa ezizukulwaneni ngezizukulwane, ukuthi waziwa ngokuthi Sherman indida. Inkambo zokwelapha yalesi sifo kusinda kakhulu kunalelo amadoda.

izimpawu

Fragile X Syndrome, izimpawu efana Autism, kungenzeka kungahlali isikhathi ingaze ngisho i wezingane abanolwazi noma udokotela wezinzwa.

Isithombe emitholampilo ingase yehluke kuye ngesistimu inani ezinikezwa C-YY.

In the version zakudala ye lengqondo retardation kubonisa Fragile X Syndrome. Photo of the ingane ikuvumela ukuba ubone izimpawu zokuqala isici isifo. Kukhona isiphithiphithi futhi discoordination ukunyakaza, ukuba buthakathaka kwezicubu eba. Kaningi, izingane uhlushwa Autism. On luhlolo, isazi sezinzwa lembula ukuphazamiseka emsipheni oculomotor , futhi abanye ngeziphambeko ebuchosheni. Njengoba bekhula, isimo sibe sibi nakakhulu, kancane kancane zandise izinto kwephethini retardation engqondo.

Njalo nokugula ngengqondo abakhona: umntwana ngokuvamile uphuphuma, imibukiso unmotivated grimaces ngokuvamile eshaya izandla, ngezinye izikhathi liziphatha ngobudlova kakhulu. izimpawu ezinjalo kuthi akufane nokwenzeka sokuphazamiseka kwengqondo. Enye indlela yokuzivikela Autism, okuyinto kwaqala ekuqaleni kuka ebuntwaneni.

Fragile X Syndrome: izimpawu

Isici ethize wabafana ukwandisa usayizi emasendeni (makroorhizm), kodwa kungatholakala kuphela nokuthomba. Kulokhu, ukungasebenzi endocrine bengekho.

Ukushintsha ukubonakala okulula-non-ethize, kodwa singase sibhekane udokotela ukuthola uphethwe kwesokudla. Ngokuvamile ingane iyinhloko enkulu, ubuso eside futhi kancane lwalugobile ithiphu rostral ikhala. Kube kufanele Ubukhulu esikhulu nasezinzwanini, iminwe linebanga kakhulu anda motion. Ngokuvamile, isikhumba has a kuyaqina okusezingeni eliphezulu.

Izenzo premutatsionnogo okufana lesi sifo anezici ezithile. Ukuze ataxia syndrome libhekene eliqhaqhazelayo kanye inkumbulo kahle, ikakhulukazi ngesikhathi esifushane, kunezinguquko kwemizwa kanye zavela kancane kancane komqondo kanye nokwehla kwemisebenzi engqondweni yethu (ukungakwazi ukufunda nokuqonda inkulumo). Symptomatology eba ngaphezulu njalo amadoda yenethiwekhi futhi Yiqiniso okwedlula abesifazane.

ukuhluleka Primary wesibeletho libhekene ukubukeka menopause ngaphambi kwesikhathi futhi zingaphazamisa ukusebenza kohlelo, "i-pituitary-wesibeletho". Okuqukethwe kwandisa follicle eqabulayo ama-hormone, okuholela ukuvela futhi ukunyamalala izimpawu kokuya esikhathini vegetative. Isifo siqhubeka kancane kancane futhi zidinga i-hormone replacement therapy.

Indlela ukuxilonga syndrome

Ukuze isinqumo esikiselwayo isifo kusaqalwa ingane indlela efanelekayo cytogenetic. Kwenzeka kocingo nesineke cell impahla kanye wanezela Vitamin V₁₀ (i-folic acid) njengoba izinguquko provocateur e-chromosome. Ngemva kwesikhathi esithile, ukuhlola okuthile kwembula chromosome ne thinning abalulekile, okubonisa ukuthi lesi sifo Martin-Bell, Fragile-X syndrome. Le ndlela laboratory luhlolo akuyona ngokwanele kunembile ngaleso ezigabeni kamuva, ngenxa bekholelwa multivitamins, okuhlanganisa i-folic acid.

Kuyinto ethize kakhulu polymerase chain reaction (i-PCR), okuvumela ukuba wokufunda isakhiwo izinsalela acid acid ku-X chromosome futhi ukhombise Fragile X Syndrome. Izithombe eyenziwe ngesibonakhulu electron, kubonisa esizeni ehlambulula autosomes.

A ehlukile, samuntu namanje olucacile yisona inhlanganisela PCR ne ukuthola e capillary electrophoresis. Lokhu kuhlola kuthola ngokunembile chromosome kwezinso in iziguli syndrome ataxic futhi eyinhloko esingamahlalakhona wesibeletho.

ukwelashwa

Ngemva PCR, futhi sitholakele "Fragile X Syndrome", ukwelashwa kufanele kuqale ngokushesha ngangokunokwenzeka.

Njengoba lesi sifo azalwa naso futhi imvelaphi chromosomal, ukwelashwa kuyehla kube ekudambiseni izimpawu ezinkulu zesifo.

uhlelo zokwelapha okuhloswe ngaso ukunciphisa ukubonakaliswa lengqondo retardation, izinguquko ukulungiswa syndrome ataxic nokusekelwa hormone primary ukwehluleka wesibeletho.

Izingane nge retardation sengqondo nokuba yi ukuqinisekisile of PCR ukuxilonga "Fragile X Syndrome". Russia ayinakho zezempilo, lapho umthwalo wokuvuselelwa ngokwendalo lezi zingane, ngakho sesiluleme isazi sezifo zezingane kanye nezifundiswa ezihlobene. Ngokushesha kufanele kuphawulwe ukuthi ukwelapha ezinganeni kahle kakhulu kunabantu abadala. Le nqubo ye engqondweni yethu yokuziphatha therapy imihlangano nge-kwengqondo ku umuntu isisekelo, ukuzivocavoca, amafomu ukukhanya evuselela. A mkhuba empeleni esasisesisha ukusetshenziswa amalungiselelo esekelwe i-folic acid, kodwa imiphumela ezikude wafunda.

ukwelashwa yezokwelapha Adult kuhlanganisa evuselela futhi antidepressant, esiqhutshwa zokuqapha ashukumisayo njalo kwengqondo futhi isazi sokusebenza kwengqondo. Ngo emitholampilo yangasese afeze amaseshini microinjection ukulungiselela "Cere" namanye amagama ahlobene nalo, cytomedines (imithi "Lidaza", "Solkoseril").

Lapho nootropics esetshenziswa ataxic syndrome ne igazi thinners, angioprotectors kanye Izingxube amino acid. Primary ukwehluleka wesibeletho kwabesifazane estrogens futhi ngamakhambi kuncike ukulungiswa.

Ukuphumelela kwelashwa iphansana, kodvwa kuvumele isikhathi abanye ukuba banciphise ijubane ukuqhubeka kwesifo.

zokuvimbela

Indlela kuphela zokuvimbela ukuhlolwa kwabesifazane abakhulelwe. Esikhathini athuthukile
amazwe wethula ucwaningo ezingaba ukubona Fragile X Syndrome ngendlela efanele usaqala kanye sokuqeda ukukhulelwa. I samuntu okunye ungaphakathi kokukhulelwa kwesibeletho, okungase neqhaza ekuqinisekiseni ukuthi ingane ngofuzo Ngokuzayo "enempilo" X chromosome.