Inja I-Amelogenesis Imperfecta kuRussell Terrier (AI-RT)

Ushunqulelo : AI-RT

Utshintsho oluhlaziyiweyo : ENAM c.716C>T

Ilifa : I-Autosomal Recessive

Isifinyezo

AI-RT

Ukuqwalaselwa rhoqo

Kunqabile

Ubunzima beklinikhi

Ubulali

Ukuhlelwa kweklinikhi

Izifo zamazinyo

Uguqulo oluhlalutyiweyo

ENAM c.716C>T
p.(P239L)

Indlela yelifa

I-Autosomal Recessive

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Inzala yamkelwe kuvavanyo : I-Amelogenesis Imperfecta kuRussell Terrier (AI-RT)

Parson Russell Terrier

Ukutolikwa kwee-genotypes Genotype Ubume Funda ngakumbi malunga nokutolikwa kwee-genotypes FAQ: ukuqonda ukutolikwa kwesiphumo Lithetha ukuthini elithi “Sula”? Isilwanyana asiluthwali utshintsho. Ayiyi kuphuhlisa isifo kwaye ayiyi kudlula. Ngaba "Umthwali" unzulu? Akunjalo. Ngokuqhelekileyo esi silwanyana sisempilweni kodwa sinokudlulisela inguqulelo kwinzala yaso. Kuthekani ukuba isilwanyana “Sichaphazelekile”? Iphethe iikopi ezimbini eziguqulweyo. Iimpawu zeklinikhi zilindeleke ngokuxhomekeke kwisifo. Akufunekanga ikhuliswe. Kutheni kukho umahluko phakathi kwendoda/yebhinqa? Ezinye izifo zidibene nesondo, ngoko ukubonakaliswa kwazo kuyahluka ngokuxhomekeke kwisini sesilwanyana. Isilwanyana sineekopi ezimbini eziqhelekileyo zofuzo. Akukho mngcipheko wokuphuhlisa okanye wokudlulisela isifo. Umthwali weHeterozygous: ikopi enye eguqulweyo. Isilwanyana ngokuqhelekileyo asichaphazeleki kliniki kodwa sinokudlulisela utshintsho kwinzala. Umthwali oyindoda okanye ochaphazelekayo ngokuxhomekeke kwindlela yelifa. Amadoda anechromozomi enye kuphela u-X okanye u-Y. I-Heterozygous female carrier: ikopi enye eguqulweyo. Unokuludlulisela uguquko kwaye ngamanye amaxesha angabonisa iimpawu zeklinikhi ezinobuthathaka ngokuxhomekeke kwimeko. Iikopi ezimbini eziguqulweyo zejini. Isilwanyana sisemngciphekweni wokuphuhlisa imeko ehambelana nayo.

🧬 Interpretation of genotypes AI-RT

Genotype

Ubume

🟡 N/N

Non-carrier - Akukho Mngcipheko

🟡 N/AI-RT

Umthwali-Akukho Mngcipheko

❌ AI-RT/AI-RT

Uchaphazeleka - Usemngciphekweni

FAQ: ukuqonda ingcaciso

Lithetha ukuthini elithi “Sula”?

Isilwanyana asiluthwali utshintsho. Ayiyi kuphuhlisa isifo kwaye ayiyi kudlula.

Ngaba "Umthwali" unzulu?

Akunjalo. Esi silwanyana sisempilweni ngokuqhelekileyo kodwa sinokudlulisela inguqulelo yemfuza yemfuza inzala.

Kuthekani ukuba isilwanyana “Sichaphazelekile”?

Iphethe iikopi ezimbini eziguqulweyo. Iimpawu zeklinikhi zilindeleke ngokuxhomekeke isifo. Akufunekanga ikhuliswe.

Kutheni kukho umahluko phakathi kwendoda/yebhinqa?

Ezinye izifo zinxulunyaniswa nesondo, ngoko intetho yazo iyahluka ngokuxhomekeke kwi isini sesilwanyana.

I-Genotype Forecast yeNzala Umama Utata Non-carrier Umthwali Echaphazelekayo Umnqamlezo othandekayo: uninzi Umngcipheko wokuthwala yeyona iphambili. Uninzi luyachaphazeleka Hlunga nge-genotype kamama Hlunga ngegenotype katata Konke Cingela Inzala Isilwanyana sineekopi ezimbini eziqhelekileyo zofuzo. Akukho mngcipheko wokuphuhlisa okanye wokudlulisela isifo. Umthwali weHeterozygous: ikopi enye eguqulweyo. Isilwanyana ngokuqhelekileyo asichaphazeleki kliniki kodwa sinokudlulisela utshintsho kwinzala. Umthwali oyindoda okanye ochaphazelekayo ngokuxhomekeke kwindlela yelifa. Amadoda anechromozomi enye kuphela u-X okanye u-Y. I-Heterozygous female carrier: ikopi enye eguqulweyo. Unokuludlulisela uguquko kwaye ngamanye amaxesha angabonisa iimpawu zeklinikhi ezinobuthathaka ngokuxhomekeke kwimeko. Iikopi ezimbini eziguqulweyo zejini. Isilwanyana sisemngciphekweni wokuphuhlisa imeko ehambelana nayo.

Cingela Inzala

Hlunga nge-genotype kamama Hlunga ngegenotype katata

N/N (Non-carrier)

N/AI-RT (Umthwali)

AI-RT/AI-RT (Echaphazelekayo)

DNA Test FAQ

Olu vavanyo lweDNA lufumanisa ntoni?

This DNA test detects the mutation associated with Amelogenesis Imperfecta In Russell Terrier (AI-RT) in order to identify clear, carrier, or at-risk animals.

Kutheni uvavanya isilwanyana esizalayo?

Uvavanyo lweDNA lunceda abafuyi bacwangcise ukukhwelana okukhuselekileyo kunye nokunciphisa umngcipheko wokudlulisela utshintsho kwinzala.

Ithini indlela yelifa kolu vavanyo?

Indlela yelifa echazwe kolu vavanyo yi-Autosomal Recessive.

Loluphi utshintsho oluhlalutywayo kolu vavanyo?

This test analyses the mutation ENAM c.716C>T.

Ngaba isilwanyana esithwalayo siyachaphazeleka?

Akunjalo. Ukutolika kuxhomekeke kwipateni yelifa kunye nesiphumo se-genotype.

Iimbekiselo

Hytönen Marjo K, Arumilli Meharji, Sarkiala Eva, Nieminen Pekka, Lohi Hannes. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet. 2019 May;138(5):525-533. doi: 10.1007/s00439-019-01997-8. Epub 2019 Mar 15.

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