Robertsonian translocations: kufotokoza, mbali ndi makhalidwe a

Buku lonse la zinthu majini kuwonjezekeredwa awiriawiri 46 DNA. khromozomu A amadziwika kwa zamoyo, zopezeka mu phata selo. A munthu wathanzi ali karyotype wa awiriawiri 23 DNA diploid. Kuti ndi 46 XX - khromozomu anapereka akazi ndi 46 XY - wamwamuna ya DNA. Pamene inu kuthyola khromozomu, ndi zofunika "mtumiki" wa malamulo chibadwa, zosiyanasiyanazo kuyan'anila zimachitika.

Masinthidwe sali wapadera kwa anthu. kusintha Small m'nkhaniyo majini amathandiza kuti zosiyanasiyana maonekedwe a chikhalidwe. Mu otchedwa moyenera kusintha chromosomal translocation sikuchita kufa zambiri ndipo popanda mwendo zosafunika. Nthawi zambiri izi zimachitika panthawi meiosis (khromozomu magawano), komanso nthawi zina mbali ya DNA ndi lingafanane (mwendo amapezeka), kenako zotsatira zake ndi osadalirika. Koma tikambirana yekha translocations Robertsonian, makhalidwe awo ndi zotsatira.

Robertsonian translocation - ndichiyani? mavuto majini a anthu

Chifukwa chotupa cha khromozomu pafupi centromere pali kusintha kandalama malamulo chibadwa. kusiyana mwina limodzi, koma zimachitika kawirikawiri. mkono umodzi wa khromozomu pambuyo kutulukira (zambiri yochepa dzanja) atayika. Koma inadza nthawi imene kutulukira limapezeka nthawi imodzi mu 2 DNA, mikono lalifupi amene swapped. Nthawi zina, iwo imvera translocation mbali chabe ya paphewa. Koma ngati manja lalifupi DNA acrocentric mu mtundu (kumene centromere ukugawa khromozomu pa mikono yaitali ndi waufupi) konse kunyamula zinthu zofunika kwambiri. Kuwonjezera imfa ya zinthu ngati zimenezi si ofunika kwambiri chifukwa chuma cholowa ndi liwonerere kwa DNA ena acrocentric.

Koma pamene analekanitsa lalifupi dzanja zinaphatikizidwa ndi manja yochepa jini wina, ndi kutalika otsala amadziwikanso soldered wina ndi mzake, chotero translocation salinso moyenera. Amenewa "rearrangement" chuma majini - ichi ndi Robertsonian translocation.

Ine kufufuza ndipo anafotokoza mtundu wa translocation W. Robertson mu 1916. Ndipo dzina lake ndi anomaly. Robertsonian translocation kungachititse kuti chitukuko cha khansa, koma mwina bwanji maonekedwe ndi thanzi la nthandala. Komatu, mwanayo nthawi zambiri, ngati kholo limodzi ali ndi translocation, anabadwa olumala.

Kodi wamba kusintha?

Chifukwa patsogolo luso ndi chitukuko cha chibadwa sayansi, lero n'zotheka kudziwa pasadakhale ngati pali kuvutika mu karyotype wa mwana wosabadwayo. Tsopano n'zotheka kuti agwire ziwerengero: kangati pali anomaly majini? Malinga ndi kafukufuku panopa, translocations Robertsonian zimachitika mmodzi mwa makanda zikwi. Ambiri zambiri matenda translocation wa khromozomu 21.

Small chromosomal translocation ndi alibiretu kuopseza mtumiki wake. Koma pamene zingamvekere mbali zofunika za ndondomekozi, mwana angabadwe akufa kapena kufa m'miyezi yochepa, monga Mwachitsanzo, choncho ndi vuto Patau. Koma Patau syndrome kumachitika kawirikawiri. Kwinakwake 1 mu kubadwa 15,000.

Zinthu achititsa kuti zikamera wa translocation mu DNA

Mu chikhalidwe, pali mowiriza kusintha, ie, popanda. Koma chilengedwe awaonera yakeyake chitukuko cha matupi athu. zinthu zambiri zimene zimathandiza pafupipafupi kusintha mutational. zinthu zimenezi zimatchedwa mutagenic. Mumadziwika ndi zinthu zotsatirazi:

• zimakhudzira zapansi nitrogenous;
• mlendo DNA biopolymers;
• akuchikazi wambiri mowa pa mimba;
• mmene mavairasi pa mimba.

The translocation ambiri kumachitika chifukwa mavuto cheza pa thupi. Zingamvekere ultraviolet poizoniyu, mapulotoni X-ray, ndi Popanga madzi a gamma kunyezimira.

Amene ali mutu kusintha khromozomu?

Kukumana translocation wa khromozomu 13, 14, 15 ndi 21. wotchuka kwambiri ndi woopsa translocation - ndi translocation Robertsonian pakati DNA 14 ndi 21.

Ngati chifukwa cha mitundu meiosis owonjezera khromozomu (trisomy) yoopsa ndi translocation zimenezi, mwanayo adzabadwa ndi matenda Down. Nkhani yomweyo zingatheke ngati Robertsonian translocation kwachitika pakati DNA 15 ndi 21.

Translocation wa khromozomu gulu D

Robertsonian translocation khromozomu Gulu D amakhudza DNA yekha acrocentric. DNA 13 ndi 14 PALI translocations mu 74% milandu, ndipo iwo amatchedwa translocations akamakonda, zomwe nthawi zambiri zotsatira zowawa chifukwa moyo ayi.

Komabe, pali chochitika chimodzi chimene chingabwere limodzi anomalies amenewa. Robertsonian translocation 13, 14 amuna kungachititse kuti chakhungu chonde ya chotengera wamwamuna (45 xy khromozomu zanu). Chifukwa chakuti, chifukwa imfa ya manja onse lalifupi m'malo awiriawiri 2 DNA zambiri pali amene ali ndi ziwiri gametes munthu woteroyo sangapereke ana yotheka yekha.

Yemweyo Robertsonian translocation 13, 14 akazi ndipo kumachepetsa umatha kukhala ndi mwana. Mwezi pali akazi amenewa, ndipo komabe panali nthawi zina kubereka ana athanzi. Koma ziwerengero akadali kusonyeza kuti ali osowa. Kwenikweni, ana awo sali yotheka.

Zotsatira za translocations

Tapeza kuti ena kusintha structural ndi zabwinobwino ndipo sizikuopseza. Robertsonian translocation wagawo anatsimikiza yekha ndi kuwunika. Koma kukonzanso translocation mu mndandanda wa m'badwo wotsatira DNA kale oopsa.

Robertsonian translocation 15 ndi 21 molumikizana ndi kusintha zina structural Mwina zoopsa. Zotsatira za ena kusintha kandalama karyotype anafotokoza mwatsatanetsatane. Kumbukirani kuti karyotype - ndi chibadidwe kuika munthu DNA phata la.

Trisomy ndi translocation

Komanso translocations chibadwa olekanitsidwa chosayenerera monga trisomy khromozomu. Trisomy zikutanthauza kuti yoopsa karyotype wakhazikitsa munthu DNA triploid m'malo mabuku 2 zina amapezeka trisomy zithunzi. Kuti ndi triploid ya anati si maselo onse a m'thupi.

Trisomy pamodzi translocation Robertsonian kumabweretsa mavuto aakulu kwambiri: monga Patau syndrome, Edwards ndipo ambiri ozerezeka. Nthawi zina, gulu la anomalies kumabweretsa padera mu magawo oyambirira.

Pansi ndi matenda. mawonetseredwe

Tikumbukenso kuti translocation zokhudza DNA 21 ndi 22 ali wolimba kwambiri. anomalies amenewa amapha, si theka woopsa, koma kuyambitsa olumala kakulidwe. Choncho, trisomy 21 osakaniza ndi translocation Robertsonian mu karyotype mu kusanthula yoopsa karyotype - Mudzayamba "chizindikiro" cha Down matenda chibadwa.

syndrome pansi a amakhala ndi olumala ndiponso nkhawa. Ulosi wa moyo wa anthu awa ndi yabwino. Ngakhale matenda a mtima ndi ena kusintha thupi mu mafupa, ndipo thupi lawo likugwira bwino ntchito.

Mbali khalidwe la matendawa:

• lathyathyathya nkhope;
• yatupa lilime;
• kwambiri wa khungu pa khosi, kupita pindani;
• clinodactyly (kupindika zala);
• epicanthus;
• matenda a mtima n'zotheka 40% ya milandu.

Anthu amene ali ndi matenda pang'onopang'ono kuyamba kupita, kunena mawu. Komanso kuphunzira zovuta kuposa ana ena a zaka zofanana.

Koma angathe ntchito yopindulitsa komanso ndi ena thandizo ndi ntchito yake ndi ana awa ali bwino ndizicheza m'tsogolo.

syndrome Patau

syndrome ndi zochepa wamba kuposa syndrome Down, koma zopindika amitundumitundu ndi mwana kwambiri. Pafupifupi 80% ya ana ndi matenda imeneyi m'mphindi 1 chaka cha zaka.

Mu 1960 iye anaphunzira anomaly ichi ndi anatulukira zimene zimayambitsa majini kulephera Klaus Patau, ngakhale kuti mu 1657 anafotokoza syndrome T. Bartolini. Chiopsezo matenda amenewa ndi chinawonjezeka ndi akazi amene amabereka mwana patapita zaka 31.

ana awa achuluka kupunduka kwa kuthupi pamodzi ndi chitukuko aakulu psychomotor. Khalidwe la matendawa:

• microcephaly;
• manja nthenda, kawirikawiri anapanga zala owonjezera;
• otsika makutu akonzedwa mawonekedwe osasamba;
• mphanga mlomo;
• lalifupi khosi;
• maso chopapatiza;
• bwino "olowa" mlatho;
• zopindika a impso ndi mtima;
• mphanga mlomo kapena m'kamwa;
• Mimba Pali mtsempha wamagazi chimodzi chokha umbilical.

A ochepa chopulumuka makanda thandizo kuchipatala. Ndipo iwo amakhala nthawi yaitali. Koma anomalies kobadwa nako akadali bwanji chikhalidwe cha moyo ndi kufupika kwake.

syndrome Edwards

Trisomy 18 khromozomu translocation chapansipansi kumabweretsa Edwards Syndrome. syndrome Izi zochepa zodziwika bwino. Ndi matenda mwana sadzachitanso kupulumuka kwa miyezi sikisi. masoka kusankha malamulo salola kukula zayamba olumala angapo.

Ambiri, chiwerengero cha zofooka zosiyana mu syndrome Edwards - pafupifupi 150 alipo ziwiya malformations magazi, mtima, ziwalo. Zopezeka mu makanda izi hypoplasia wa cerebellum lapansi. Pali anomalies ya kapangidwe ka zala. Nthawi zambiri chotero anomaly chosiyana kuoneka chilema phazi.

mayesero Kodi kudziwa kuvutika mu utero?

Pakuti karyotype kusanthula mu yoopsa kofunika kupeza chuma - maselo yoopsa.

nkhani zingapo. Kuzindikiritsa mmene kumachitika.

1. chorionic villus zitsanzo zosankhidwazi. The kusanthula pa masabata 10. Izi villi - ndi mwachindunji tinthu latuluka. tinthu uyu wa zinthu zamoyo adzatiuza zonse za tsogolo la chipatso.

2. Amniocentesis. Ndi singano akutengedwa ochepa maselo yoopsa, ndi madzimadzi amniotic. Iwo anatengedwa makamaka pa sabata 16 mimba, ndipo patapita masabata angapo, banjali mukhoza kupeza mfundo zambiri zokhudza moyo wa mwanayo.

Pa kusanthula izi zimatumizidwa amayi ndi chiopsezo kupereka mwana olumala kuchuluka. Kawirikawiri kusanthula majini imatsogoleredwa awiriawiri anthu amene:

1) anali zodabwitsa mimba;

2) awiri sanathe kuchilandira mwana;

3) mu banja anapezeka pa yogwirizana aya chikhalidwe.

Anthu aang'ono awa akhoza kukhala translocations Robertsonian ena DNA. Ndipo kotero iwo ayenera patsogolo kuti kuwunika pa karyotype kudziŵa pali kuthekera kuti anyamule ndipo adzabala mwana wathanzi.