Kan thlahte atang pawhin natna kan vei dawn em ni? (Autosomal Dominant & Recessive Inheritance) tih hi a awlsam zawngin a awm

Nang pawh hi in lamah, "Heng mitte hi ka nu mit ang mai a ni," "Ka sam hi ka pa ang mai a ni," emaw, "He thinrim hi ka pi ang mai a ni," tih te pawh i hrilh tawh ngei ang. Dik tak chuan kan nu leh pate hnen atangin thil tam tak kan dawng a, chu chu kan hmel lan dan te, kan san zawng te, kan vun rawng te, leh kan sam awm dan te hi a ni. Hei hi rochan kan ti a. Mahse, natna leh hriselna dinhmun thenkhat pawh hi thlah khat atanga chhuan dangah rochun theih a ni tih i hria em? Vawiin hian he genetic inheritance hi eng nge a nih tih leh, thlah khat atanga thlah danga natna inkaichhawn dan hi han sawi ila.

A hmasain, he genetic inheritance chanchin hi i hrethiam ang u.

Hei hi hrethiam tur chuan kan taksa chungchanga thil bulpui ber thenkhat kan sawi a ngai a ni. Kan taksa hi library lian tak angin han ngaihtuah teh.

• Chromosomes: He library-a lehkhabu awmte hi chromosomes an ti a. Heng lehkhabu te hi mihring cell tinah 46 a awm a. Chung zinga 23 chu nu hnen atanga rochun niin a dang 23 chu pa hnen atanga rochun an ni.
• Genes: Genes chu chu lehkhabu chhunga recipe ziah te chu a ni. Recipe pakhatah hian eng sam rawng nge i neih dawn tih a hrilh che a, pakhatah chuan eng mit rawng nge i neih dawn tih a hrilh che a, pakhatin eng ang san zawng nge i neih dawn tih a hrilh bawk... Hetiang recipe hi sang tam tak a awm.
• DNA: Recipe ziaktu lehkha te hi DNA an ti a. Heng DNA an tih lehkhabu te hi an inzawm khawm a, gene an siam a, gene te chu an inzawm khawm a, chromosome an siam ta a ni.

Chuvangin, i nu leh i pa hnen atangin chromosome 23 ve ve i hmuh avangin gene tin copy pahnih i hmu a ni. I nu hnen atangin pakhat, i pa hnen atangin pakhat. Heng genes te hian i taksa chhunga thil awm zawng zawng hi a hril vek a ni.

Tunah chuan ‘Autosomal’ tih thumal hian eng nge a awmzia? Kan taksaa chromosome 46 zinga pahnih hian kan mipa leh hmeichhia a hril a ni. Sex chromosome (X leh Y) an ti a. Chromosome dang 44 (pair 22) chu number pek a ni. Autosomal tih awmzia chu heng number nei chromosome 22 zinga pakhatah hian gene pakhat a awm tihna a ni.

Natna rochun dan lian ber pahnih (Autosomal Dominant & Recessive) .

Natna thlentu gene danglam chu kawng lian pahnih hmangin thlah khat atanga thlah dangah a kal zel a ni. Hriatthiam awlsam zawk nan heng kawng hnih hi han thlir ila.

Autosomal Dominant: Gene pakhat, chakna tam zawk!

A awlsam zawngin Dominant tih awmzia chu ‘dominant’ emaw ‘strong’ emaw tihna a ni. He system-ah hian natna thlentu gene danglam chu a chak hle a ni. Chuvangin, naupangin nu leh pa pakhat chauh a\angin gene hi rochun mah se, naupangin natna a neih theih nan a tawk a ni.

Chuvangin chhungkuaa mi tu emaw hian Autosomal Dominant natna a neih chuan thlah khat atanga thlah dangah chiang takin a lang. Nu emaw pa emaw pawhin an neih chuan naupang tin hian 50% risk an nei vek a ni.

Autosomal dominant taka rochun natna entirnan:

• Huntington’s disease: Thluaka nerve cell te zawi zawiin an thihpui natna a ni.
• Marfan syndrome: Taksa inzawmkhawmna (connective tissue) te a nghawng a, taksa sang leh sei, leh ke leh kut zungtang sei tak a siam thin.
• Achondroplasia: Dwarfism thlentu lian ber a ni.

Autosomal Recessive: Gene pahnih a mamawh a, thup theih a ni!

Recessive tih awmzia chu ‘silent’ emaw ‘underlying’ emaw tihna a ni. Hetiang a nih chuan natna thlentu gene danglam chu a chak vak lo. A nghawng a neih theih nan chuan gene chu nu leh pa atanga rochun a ngai a ni. Gene pahnih hi an inzawm khawm chauh chuan naupang chuan natna a nei ang.

Ngaihtuah teh, nu leh pa pahnih hi an hrisel a ni. Mahse an pahnih hian he altered recessive gene "carrier" an ni thei. Chumi awmzia chu gene hrisel leh natna thlentu gene an nei ve ve tihna a ni. Mahse gene hrisel tak hian a thunun avangin symptom engmah an lantir lo. Paint dum bucket khata blue paint drop khat dah ang mai a ni. A rawng pawh a danglam vak lovang.

Mahse hetiang carrier nu leh pa pahnih hian fa an neih chuan hetiang hian a thleng thei ang:

• Naupang hian nu leh pa hnen atangin gene hrisel pahnih a dawng vek a, a hrisel famkim theihna chance 25% a awm.
• Naupang chu nu leh pa ang bawkin asymptomatic carrier a nih theihna chance 50% a awm.
• Naupang hian nu leh pa pahnih atanga natna thlentu gene hi a rochun a, he natna hi a neih theihna chance 25% a awm .

Chuvang chuan chhungkuaa tumahin he natna hi an nei lo a nih pawhin naupang pakhatin natna a nei thut mai thei a ni. Hei hi a chhan chu nu leh pate hi hriat lohvin carrier an nih vang a ni.

Autosomal recessive hmanga rochun natna entirnan:

• Cystic fibrosis: Taksa chhunga mucus (fluid like mucus) thicking avanga lung leh chaw ei kawng tichhe thei natna a ni.
• Sickle cell disease: Thisen sen (red blood cells) pianzia inthlak danglam avanga thisen tlakchhamna (anemia) a awm.
• Tay-Sachs disease: Natna thihna thlentu, thluak leh ruhro chhunga nerve cell awmte tichhe thei natna a ni.

Engtin nge gene-ah hian mutations a awm?

A châng chuan kan cell-te an inthen hian DNA copy-naah tihsual tenau te a thleng ṭhin. Lehkhabu copy lai hian lehkha a inher kual ang mai a ni. Hengte hi genetic mutations kan ti a. Chûngte chu a chhe reng reng lo va, ṭhenkhat chuan nghawng a nei lo tak zet a ni. Mahse mutations thenkhat chuan gene hnathawh dan a thlak danglam thei a, natna a thlen thei bawk.

Deformities chi hrang hrang a awm a, chungte chu:

• Substitution: DNA code-a letter pakhat chu a dang hmanga thlak a ni.
• Insertion: DNA code-a letter dang dah belh.
• Deletion: DNA code atanga lehkha pakhat lakchhuahna.

He inthlak danglamna tenau tak pawh hian gene siam protein hnathawh chu a thlak danglam vek thei a, natna a thlen thei bawk.

Hemi chungchangah hian rinhlelhna i neih chuan eng nge i tih ang?

I chhungkuaa mi tu emaw hian genetic disease a nei a nih chuan, emaw, nupa tuak khat, fa neih tum in ni a, hlauhawma inhriat a nih chuan, i tih theih tha ber chu i doctor nen inbiakna neih hi a ni.

Tunlai hian genetic testing leh genetic counseling ang chi service a awm ta a ni.

• Genetic test hrang hrang: 1.1.Chûngte chuan i gene, chromosome, a nih loh leh protein-a inthlâk danglamna eng pawh chu a hriat theih a ni. Heng test te hian natna thlentu mutated gene i neih leh neih loh, a nih loh leh carrier i nih leh nih loh hriat nan a pui thin.
• Genetic counseling: Genetic counselor chuan heng test result te hi a hriatthiam theih nan a pui thei che a, i chhungte tana hlauhawm tur chungchang sawipui thei che a, hmalam hun tur ruahmanna siamsak thei che a ni.

Kan DNA hriselna hi kan vawng reng thei ang em?

Kan nu leh pate hnen atanga kan rochun genes te hi kan thlak danglam thei lo nain, kan dam chhung zawnga kan DNA tihchhiatna tihtlem nan leh a hriselna vawng reng turin thil engemaw zat kan tih theih a awm.

• Ei leh in inthlau tak ei rawh. Chaw tha tak tak te hian kan cell te hi a hrisel theih nan a pui thin.
• Exercise neih fo thin ang che. Exercise hian taksa hriselna zawng zawng a titha a ni.
• Meizial zuk loh vek tur a ni. Zuk leh hmuam chhunga chemical awmte hian DNA direct-in a tichhe thei a ni.
• Zu in hi tihtlem rawh. Zu in tam lutuk hian cell tan pawh a pawi hle.
• A hun taka damdawi lam enfiahna leh thurawn zawng rawh. Harsatna eng pawh hi a tir lamah hriatchhuah a pawimawh hle.

Heng thilte hian kan hriselna pum pui a ti tha thei a ni.