Autosomal e fetelletseng

Autosomal recessive ke e 'ngoe ea litsela tse' maloa tseo tšobotsi, bokuli kapa bokuli bo ka fetisoang ka malapa.

Boloetse bo fetelletseng ba autosomal bo bolela hore ho tlameha ho ba le likopi tse peli tsa lefutso le sa tloaelehang molemong oa lefu kapa sebopeho.

Ho fa lefa le itseng lefu, boemo kapa tšobotsi ho latela mofuta oa chromosome e amehileng. Mefuta e 'meli ke li-chromosome tsa li-autosomal le li-chromosome tsa thobalano. Ho boetse ho latela hore na tšobotsi e matla kapa e fetelletseng.

Ho fetoha ha liphatsa tsa lefutso ho e 'ngoe ea li-chromosome tse 22 tsa pele tsa nonsex ho ka lebisa bothateng ba autosomal.

Liphatsa tsa lefutso li tla ka bobeli. Liphatsa tse ling tsa lefutso li tsoa ho 'm'a tsona,' me liphatsa tse ling li tsoa ho ntate. Lefa le fetelletseng le bolela hore liphatsa tsa lefutso ka bobeli li lokela ho ba tse sa tloaelehang ho baka mafu. Batho ba nang le lefutso le le leng feela le nang le sekoli ka bobeli ba bitsoa bajari.Hangata batho bana ha ba amehe ke boemo bona. Leha ho le joalo, ba ka fetisetsa lefutso le sa tloaelehang ho bana ba bona.

MEKHOA EA HO RUA LEFA MOEA

Haeba u tsoetsoe ke batsoali ba nang le liphatsa tsa lefutso tse tšoanang tsa autosomal, u na le monyetla o le mong ho ba bane oa ho rua lefutso le sa tloaelehang ho batsoali ka bobeli le ho ba le lefu lena. U na le monyetla oa 50% (1 ho 2) oa ho futsa lefutso le le leng le sa tloaelehang. Sena se ka u etsa mokalli.

Ka mantsoe a mang, bakeng sa ngoana ea tsoetsoeng ke banyalani ba nang le liphatsa tsa lefutso (empa ba se na matšoao a lefu), sephetho se lebelletsoeng bakeng sa bokhachane ka bong ke:

• Monyetla oa 25% oa hore ngoana a tsoaloe a na le liphatsa tsa lefutso tse peli tse tloaelehileng (tse tloaelehileng)
• Monyetla oa 50% oa hore ngoana a hlahe a e-na le liphatsa tsa lefutso tse tloaelehileng le tse sa tloaelehang (sesebelisoa, ntle le lefu)
• Monyetla oa 25% oa hore ngoana a hlahe a na le liphatsa tsa lefutso tse peli tse sa tloaelehang (kotsing ea lefu lena)

Tlhokomeliso: Liphetho tsena ha li bolele hore bana e tla ba bajari kapa ba amehe hampe.

Liphatsa tsa lefutso - autosomal feteletseng; Lefa - autosomal feteletseng

• Autosomal e fetelletseng
• Liphoso tse fetelletseng tsa liphatsa tsa lefutso tsa X
• Liphatsa tsa lefutso

Feero WG, Zazove P, Chen F.Li-genomics tsa bongaka. Ka: Rakel RE, Rakel DP, bahlophisi. Buka ea bongaka ea Meriana ea Lelapa. La 9th. Philadelphia, PA: Elsevier Saunders; 2016: khaolo ea 43.

Gregg AR, Kuller JA. Liphatsa tsa lefutso tsa batho le mekhoa ea lefa. Ka: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, li-eds. Creasy le Resnik's Maternal-Fetal Medicine: Melao-motheo le Tloaelo. La 8th. Philadelphia, PA: Elsevier; 2019: khaolo ea 1.

Korf BR. Melao-motheo ea liphatsa tsa lefutso. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier; 2020: khaolo ea 35.