Question

Glaucoma is inherited in several ways. One form is determined by a dominant autosomal gene, the other by a recessive, also autosomal, uncoupled with the previous gene. What is the probability of having children with an anomaly in a family where one of the parents is heterozygous for both pairs of pathological genes, and the other is normal in terms of vision and homozygous for both pairs of genes?​

Answer 1

Answer:

To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition.

Explanation:

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Answer 2

• The sight is one of the five senses allowing an autonomous and high-quality life, so that alterations of any ocular component may result in several clinical phenotypes (from conjunctivitis to severe vision loss and irreversible blindness). Most parts of clinical phenotypes have been significantly associated with mutations in genes regulating the normal formation and maturation of the anterior segments of the eye.
• Among the eye anterior segment disorders, special attention is given to Glaucoma as it represents one of the major causes of bilateral blindness in the world, with an onset due to Mendelian or multifactorial genetic-causative traits. This review will point out the attention on the Primary Congenital Glaucoma (PCG), which is usually transmitted according to an autosomal-recessive inheritance pattern. Taking into consideration the genetic component of the PCG, it is possible to observe a strong heterogeneity concerning the disease-associated loci (GLC3), penetrance defects, and expressivity of the disease.
• Given the strong PGC heterogeneity, pre- and posttest genetic counseling plays an essential role in the achievement of an appropriate management of PCG, in terms of medical, social, and psychological impact of the disease
• The sight is one of the five senses allowing an autonomous and high-quality life. Hence, sight defects may turn out to be really restricting for the life quality, representing a discriminating or even a life-threatening issue, especially in developing countries. As a matter of fact, about the 75% of information we receive about the world around us relies on the ability of the eyes to receive the light and transform it into a “picture

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