[產科] 蘇怡寧醫師(看完請推文)
老師今天說要找的遺傳疾病
Autosomal Dominant
1. Achondroplasia (是FGFR3 mutation造成)
2. Hereditary breast and ovarian cancer (BRCA1 or BRCA2 mutation)
3. Charcot-Marie-Tooth Disease Type 1A (PMP22 mutation or duplication)
4. Familial adenomatous polyposis (APC mutation)
5. Familial hypercholesterolemia (Low-Density-Lipoprotein-Receptor mutation)
Autosomal recessive
1. Sickle cell anemia (Beta-Globin Val6Glu mutaion)
2. Tay-Sachs disease (HEXA mutation)
3. Thalassemia (Alpha- or beta-globin deficiency)
4. Xeroderma pigmentation (Defect of nucleotide excision repair)
5. Cystic fibrosis (CFTR mutation)<--這是AR最典型的例子
X-linked
1. Rett syndrome (MEPC2 mutation)
2. Glucose-6-phosphate dehydrogenease deficiency (G6PD mutation)
3. Duchenne muscular dystrophy (DMD mutation)
4. Haemophilia
5. X-linked hypophosphatemic rickets (also called vitamin D-resistant rickets)
各舉五個應該就夠了吧，然後我不知道這些病的中文名稱，就請大家自己查吧。
看完請推文，確定大家都有看到，謝謝。
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