Is albinism hereditary? Do you know the symptoms of albinism?

Albinism is a common disease. Patients with albinism will age earlier than normal people. Their complexion, hair quality, and whole body may be affected by albinism. Albinism is usually divided into several types, mainly congenital nutritional deficiencies, developmental disorders, and albinism caused by acquired reasons, including mutations in the patient's pigment genes. The most serious type is hereditary, which is caused by family inheritance.

The main symptoms of albinism are as follows:

Albinism is a hereditary white spot disease caused by congenital deficiency of tyrosinase, or tyrosinase dysfunction, resulting in impaired melanin synthesis. Clinically, it is divided into three types: generalized albinism, partial albinism and ocular albinism.

(1) Generalized albinism (also known as cutaneous albinism): Its main symptoms are white or pink skin all over the body, white or light yellow hair, transparent iris, loss of pigment in the choroid, red pupil, photophobia, skin is highly sensitive to light, and dermatitis is easily caused after sun exposure. This disease is often a chromosomal recessive inheritance.

(2) Partial albinism: The main symptom is a tuft of white hair on the forehead at birth, and the skin underneath is also white. In addition, there are irregularly arranged depigmented spots of varying sizes and numbers on the nose, forehead, chest, and abdomen, which generally do not disappear throughout life. Some patients may produce a small amount of pigment after sun exposure, and some people believe that this disease is related to melanocyte dysfunction.

(3) Ocular albinism: The main symptom is that the patient's skin pigmentation is normal, only the eyes show albinism, and the iris lacks pigment. Because albinos lack the protection of melanin in their skin, they are prone to solar cheilitis and dermatitis after sun exposure, and may also develop basal cell carcinoma and epithelial cell carcinoma. Therefore, they should pay attention to protecting their skin, apply sunscreen topically, and avoid sunlight as much as possible.

Albinism is an autosomal inherited disease

Determine sex-linked inheritance:

1. X-linked recessive: If the mother is sick, the child will be sick too; if the daughter is sick, the father will be sick too.

2. X-linked dominant: If the father is sick, the daughter will be sick too; if the son is sick, the mother will be sick too. If there is no such rule, it is autosomal inheritance.

There are only two situations that can be determined, autosomal dominant (both parents are sick, the daughter is normal) and autosomal recessive (both parents are normal, the daughter is sick); other situations cannot be judged with certainty. If it meets the requirements of sex chromosome inheritance, it must meet the requirements of autosomal inheritance, so it must be judged with the help of other conditions! For example, the question says "a certain number in a certain generation is homozygous (does not carry the disease-causing gene), etc." Generally, this genetic disease is inherited by sex chromosomes.

When external conditions are insufficient, we can make the most likely judgment. Other situations may still exist and need to be verified and excluded.

The method for determining the maximum probability is as follows:

Female patients＞Male patients: X-significant

Female patients＜Male patients：X hidden

Female patients = male patients: autosomal inheritance

(1) Patients have dominant inheritance from generation to generation

(2) The patient has recessive inheritance in the next generation