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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
GWAS detect genetic variants that predict the incidence of a disease. For example, GWAS have identified genetic variants that are responsible for 10% of the heritability of Type II diabetes. [7] Under the Omnigenic Model, these detected variants may not be as important as other peripheral gene effects. [8]
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders .
Human genetics is the study of inheritance as it occurs in human beings.Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
One example is hearing impairment. Hearing impairment was tracked in one specific family and through seven generations all males were affected by this trait. However, this trait occurs rarely and has not been entirely resolved. [9] Y-chromosome deletions are a frequent genetic cause of male infertility.
A neuronopathy affects the cell body of a nerve cell in the peripheral nervous system. [5] Amyotrophic lateral sclerosis; Spinal muscular atrophy; Spinal muscular atrophy with respiratory distress type 1; Atypical motor neuron diseases; Dorsal root ganglion disorders