What diseases are genetically hereditary?

2008-06-11 6:54 am
What diseases are genetically hereditary, please give some disease genes?
更新1:

richardhong18: Thank you for your answer Downs syndrome is NOT hereditary. Patients with Downs, their parents can be normal.

更新2:

ln3053ah: 請問你的資料可否注明出處? Li-Fraumeni syndrome: p35? 不是 p53 嗎?

回答 (3)

2008-06-19 12:53 am
✔ 最佳答案
The following diseases can be inherited.

Common cancers:[gene related]
Colorectal carcinoma: C-SRC, C-MYB and CERB-2
Breast cancer: BRCA1 and BRCA2
Wilms tumour:WT1
Retinoblastoma: RB1
Neurofibromatosis type 1: NF1
Neurofibromatosis type 2: NF2
Familial adenomatous polyposis: apc
Familial non-polyposis colon cancer: MSH2
Li-Fraumeni syndrome: p35
Multiple endocrine neoplasia: RET

Common diseases: [gene related]
Schizophrenia: B5
Rheumatoid arthritis (adult): DR4
Rheumatoid arthritis (juvenile ): B27
Multiple sclerosis: DR7 and DR2
Myasthenia gravis: B8 and DR3
Systemic lupus erythematous: B8 and DR3
Reactive arthritis: B27

Other diseases: [gene related]
Polycystic kidney disease: B5
Hashimoto’s thyroiditis: DR5
Goodpasture’s syndrome: DR7 and DR2
Haemochromatosis: A3 and B14
Coeliac disease: B8, DR3, DR7and DQW2
Tuberculoid Leprosy:B8

2008-06-20 15:26:30 補充:
The information is from a textbook called Clinical medicine Chapter 3 nutrition and
genetic disease.

2008-06-20 16:41:43 補充:
Yes, you are right. Li-Fraumeni syndrome is : p53 and
Two more disease from my memory(1) cystic fibrosis caused by the defected gene Cystic Fibrosis Transmembrane Regulator, CFTR.

2008-06-20 16:41:53 補充:
Without CFTR, chloride ions cannot go in and out of the mucus membrane. This leads to the decrease in the flow of water moleucles as well. The mucus created becomes in high viscosity

2008-06-20 16:42:04 補充:
(2)Retinitis Pigmentosa due to the defected gene calledPro-23-Histidine. This is a horrible disease and cannot be cured even NOW! Without Pro-23-Histidine, the light sensitive pigment called rhodopsin in rod cells cannot be made. The patient will finally blind in middle age.
2008-06-13 11:29 am
well
examples are huntington diseasae and sickle cell anemia
which huntington is a dormanent and sickle cell is recessive allile


hope it helps!
2008-06-12 4:30 pm
Down's syndrome(chromosome defect) -- > extra one chromosomes on number21

Colour blindness(gene defect) -- > defective colour-blindness (recessive) allele located on X chromosome.

G6PD deficiency(gene defect) -- > defective G6PD (recessive) allele located on X chromosome

注意: night blindness(not colour blindness!)唔係genetically hereditary disease
參考: my notes


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