Karyotyping

ʻO Karyotyping kahi hōʻike e nānā ai i nā chromosome i kahi laʻana o nā hunaola. Hiki i kēia hoʻāʻo ke kōkua i ka ʻike ʻana i nā pilikia kūpuna i ke kumu o kahi maʻi a i ʻole maʻi.

Hiki ke hoʻokō ʻia ka hoʻokolohua ma nā ʻano ʻaneʻane, me:

• Wai Amniotic
• Koko
• ʻŌiwi iwi
• Kaʻaʻaʻa mai ka meaola e ulu ana i ka wā hāpai e hānai i kahi pēpē ulu (placenta)

No ka hoʻāʻo ʻana i ka wai amniotic, ua hana ʻia kahi amniocentesis.

Pono kahi biopsy iwi iwi e lawe i kahi laʻana o ka iwi iwi.

Hoʻokomo ʻia ka laʻana i loko o kahi kīʻaha kūikawā a i ʻole ka paipu a ʻae ʻia e ulu i ka hale hana. Lawe ʻia nā kinikini mai ka hāpana hou a hoʻohaumia ʻia. Hoʻohana ka loea loea i kahi microscope e nānā i ka nui, ke ʻano, a me ka helu o nā chromosome i ka laʻana o ke kelepona. Kiʻi ʻia ka laʻana kīnā e hōʻike i ka hoʻonohonoho ʻana o nā chromosome. Kapa ʻia kēia he karyotype.

Hiki ke ʻike ʻia kekahi mau pilikia ma o ka helu a hoʻonohonoho ʻana paha o nā chromosome. Loaʻa nā Chromosome he mau kaukani o nā gen i mālama ʻia i loko o DNA, ke kumuwaiwai kumu.

E hāhai i nā ʻōlelo a ke kahu mālama ola i ka hoʻomākaukau ʻana no ka hōʻike.

Pehea ka hopena o ka hōʻoia ma muli o ke kaʻana o ke kaʻina hana i ka huki ʻia ʻana o ke koko (venipuncture), amniocentesis, a biopsy iwi ʻōiwi paha.

Hiki i kēia hoʻāʻo:

• Heluhelu i ka helu o nā chromosome
• E nānā i nā hoʻololi o ka chromosome

Hana ʻia kēia hōʻike:

• Ma luna o kahi mau kāne i loaʻa ka moʻolelo o ka hānau hānau ʻole
• E nānā i kekahi keiki a pēpē paha i loaʻa nā hiʻohiʻona ʻano ʻē a i ʻole nā ​​lohi ulu ʻana

Hiki ke hana ʻia ka iwi iwi a i ʻole ke hoʻāʻo ʻana i ke koko e ʻike ai i ka chromosome Philadelphia, i loaʻa ma 85% o ka poʻe me ka leukemia myelogenous mau (CML).

Hana ʻia ka hoʻāʻo wai amniotic e nānā i kahi pēpē e ulu ana no nā pilikia chromosome.

E kauoha paha kāu mea hāʻawi i nā hoʻokolohua ʻē aʻe e hele pū me kahi karyotype:

• Microarray: Nānā i nā hoʻololi liʻiliʻi o nā chromosome
• Fluorescent in situ hybridization (FISH): Nānā no nā hewa liʻiliʻi e like me ka holoi ʻana i nā chromosome

Nā hopena maʻamau:

• Nā Wahine: 44 autosome a me 2 chromosome wahine (XX), kākau ʻia ma 46, XX
• Nā kāne: 44 autosome a me 2 chromosome wahine (XY), kākau ʻia ma 46, XY

Nā hualoaʻa kūpono ʻole ma muli o kahi genetical syndrome a i ʻole ke ʻano, e like me:

• Down syndrome
• ʻO Klinefelter Syndrome
• Chromosome Philadelphia
• Trisomy 18
• Turner maʻi maʻi

Hoʻokumu ʻo Chemotherapy i nā haʻihaʻi chromosome e hoʻopili i nā hopena karyotyping maʻamau.

Pili nā pōʻino i ke kaʻina hana i hoʻohana ʻia e kiʻi i kahi laʻana.

I kekahi mau hihia, hiki i kahi pilikia ke ulu i nā hunaola e ulu ana i ka pā lab. Pono e hana hou i nā hoʻokolohua Karyotype e hōʻoia i ka pilikia maoli o kahi pilikia chromosome i loko o ke kino o ke kanaka.

Ka Ikepili Chromosome

• Karyotyping

Bacino CA, Lee B. Cytogenetics. I: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 20 ouk. Piladelapia, PA: Elsevier; 2016: chap 81.

ʻO Stein CK. Nā noi o cytogenetics i ka pathology hou. I: McPherson RA, Pincus MR, hua. ʻO kā Henry's Clinical Diagnosis a me Management e nā Laboratory Methods. 23rd Ed. St Louis, MO: Elsevier; 2017: chap 69.