A châng chuan doctor chuan i gene-ah hian danglamna tlemte a awm tih a hrilh thei che a, chu chu ‘Robertsonian Translocation’ an ti a ni. Heng thute i hriat hian i hlauthawng mai thei. ‘Hei hi natna khirh tak a ni em? Ka fate tan harsatna a ni dawn em ni?’ a ti a. Mahse, hlau suh. Hei hi mi tam takin an hriat loh thil a ni a, mahse hriat hlawh tak a ni. Hei hi natna awm lo tak a ni a, chu chu a vaiin mi 900 zinga pakhat vel chauhvin an vei thei tihna a ni. Vawiin hian a awlsam em em, i hriatthiam theih tur angin kan sawi dawn a ni.
A awlsam zawngin, gene leh chromosome te hi eng nge ni?
Hei hi kan hriatthiam hmain kan taksa siam dan hi han thlir ila. Kan taksa hi lehkhabu dahna lian tak awmna library ang maiin han ngaihtuah teh. He library-a lehkhabu zawng zawngah hian min siamtu thupekte a awm vek a.
Heng lehkhabu te hi damdawi lama chromosome kan tih hi a ni. Hengte hi kan genetic information zawng zawng dahkhawmtu an ni - kan sam rawng, mit rawng, san zawng, leh vun rawng atanga engkim tichiangtu instruction set.
A tlangpuiin mi hrisel chuan chromosome 46 a nei a. Chung zinga 23 chu kan nu hnen atangin kan hmu a, a dang 23 chu kan pa hnen atangin kan hmu bawk.
Chuti a nih chuan engtin nge he Robertsonian translocation hi a lo awm?
Kan taksaa chromosome 46 zingah hian chromosome 13, 14, 15, 21, leh 22 te hi a danglam deuh hlek a ni. Anni hi acrocentric chromosome an ti a . Heng chromosome te hian ‘arm’ pakhat an nei a, chu chu a tawi hle a ni. A pawimawh ber chu he kut tawi hian kan taksa hnathawhna atana pawimawh tak genetic information a nei lo tluk a ni.
Tunah chuan Robertsonian Translocation-ah chuan thil thleng chu a hmaa ka sawi tawh acrocentric chromosome panga zinga pahnih kut tawi te chu a inthen a, chu chromosome pahnih kut sei tak chu a inzawm khawm ta a ni. Thingpui pahnih te te pahnih phelh a, lakchhuah a, a bak lian pahnih chu glue khawm ang mai a ni. Tichuan chu kut te tak te hmantlak loh pahnih chu a bo ta.
Chutianga chromosome pahnih an inzawm khawm chuan tunah chuan chu mi chromosome zawng zawng chu 46 ni lovin 45 a ni tawh a, mahse hriselna lamah harsatna a nei lovang. A chhan chu gene pawimawh tak tak nei lo tlemte chauh a bo a ni.
Hei hi chi hrang hrang a awm em?
Ni e, he dinhmun hi chi hnihah then theih a ni. He dawhkan i en hian awlsam takin i hrethiam ang.
| Lampang | Hrilhfiahna |
|---|---|
| Robertsonian Translocation (Inthlauhna) hmanga inthlak danglamna (Balanced) . | Hetiang natna vei te hian symptom leh hriselna lama harsatna an nei lo. Nun rei tak, hrisel takin an nung thin. A tam zawkah chuan an nei tih pawh an hre lo. Heng mite hi ‘carrier’ tia koh an ni a, a chhan chu he natna hi an neih loh vang a ni a, mahse an fate hnenah an hlan chhawng thei a ni. |
| Robertsonian Translocation (Inthlauhna nei lo) tih hi a inthlau lo hle. | Hei hi harsatna a lo chhuah theihna hmun a ni. Hei hi naute hian genetic material a dawn tam lutuk emaw, a dawng tlem lutuk emaw a ni. Hei hi naute pian hnuah hmuhchhuah a ni tlangpui. A châng chuan nu leh pate chromosome pangngai pawh ni se, nausen pum chhunga a lo seilian lai hian he natna hi a lo awm thei a ni. A tlem hle a, nu leh pa zinga pakhat chu carrier a nih avangin naute hian he natna hi a nei thei a ni. |
Engtin nge naupang hian he dinhmun hi a rochun?
Robertsonian Translocation carrier pakhatin mi dang nen fa a neih chuan, chu gene chu kawng pawimawh pathum hmangin a rochun thei a ni. Nangmah hi carrier i ni tih han ngaihtuah teh.
1. Naupang hrisel tak: I fa hian nang leh i kawppui atang hian chromosome set pangngai a rochun thei a ni. Tichuan naupang chuan genetic problem a nei tawh lovang. Hriselna famkim a ni ang.
2. Naupang chu carrier a ni bawk ang: Naupang hian nang ang bawkin translocated chromosome leh normal chromosome te chu a rochun thei a ni. Tichuan naupang chuan hriselna lamah harsatna a nei tawh lovang. Mahse, nakin lawkah nangmah ang bawka carrier a ni dawn bawk.
3. Unbalanced condition: Hei hi naute hian genetic material extra emaw a aia tlem emaw a dawn hian a ni. Entirnan, naute hian chromosome pangngai bakah chromosome pangngai a dawng thei bawk. Hei hian naute chu genetic condition engemaw zat a nei thei a, chu chu translocation Down syndrome emaw Patau syndrome emaw a ni thei. Mahse, a natna awm dan leh a nasat dan chu chromosome dik tak an dawn danah a innghat a ni.
Risk dang a awm em?
Robertsonian translocation nei hmeichhia chuan nau pai theihna chance chu a tlangpui aia sang deuhin a nei thei. Tin, he natna vei mipa thenkhat chuan sperm count a tlahniam emaw, sperm siam chhuah theihna a tlahniam emaw pawh a ni thei bawk.
Engtin nge he dinhmun hi kan hriat theih ang?
Mi tam tak chuan carrier an ni tih an hre lo. Nau pai nawn fo emaw, naute chu genetic condition neia piang emaw chauhvin an hre chhuak thin. Tichuan doctor chuan test a order ang a, chu chu a hriat theih nan a ti ang.
Hei hi hriat chian nan test hi a awlsam hle. Thisen test awlsam tak a ni . Thisen tlem te te chu i laksak a, thisen cell chhunga chromosome awmte chu microscope hmangin an enfiah thin. He test hi Karyotyping an ti a . Chumi hnuah chuan chromosome 46 te chu a hnuaia mi ang hian i nei vek em tih chiang takin a lang thei a, pakhat chauh i nei tlem em (45), chromosomes inzawm khawm a awm em tih pawh chiang takin a lang thei bawk.
I chhungkuaa mi tu emaw hian he genetic condition hi a nei tih i hriat chuan i doctor chuan fa neih tum hmain nang leh i kawppui nen he test hi neih hmasak phawt a rawt thei ang.
Hetiang dinhmun i hriat hian hlauhna leh lungkhamna i neih hi thil pangngai a ni. Mahse a pawimawh ber chu thu dik tak dawng a, damdawi lam thurawn tul tak tak lak hi a ni.
Take-Home Thuchah a ni
- Robertsonian Translocation hi hlauh tur a ni lo. A vei tam zawk (carrier) hi an hrisel vek a, nun pangngai an hmang.
- Hei hian nghawng a neih ber chu naupang hnena gene pek chhuah hlauhawmna a ni. Mahse, carrier i nih pawhin fa hrisel tak tak neih theihna chance tha tak i la nei tho tho.
- Nau pai chhunzawm zel, nau pai harsat, emaw, chhungkaw history-a genetic disease i neih chuan, karyotyping ang chi test neih dan tur chungchangah i doctor nen inbiakna neih hi a finthlak hle.
- Hemi chungchanga zawhna dang i neih chuan i doctor zawt hreh suh . A tul chuan genetic counseling atana information, advice leh referral zawng zawng a pe vek ang che.
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