What are two examples of genetic diseases
Disorders, Syndromes & Diseases
Genetic diseases and syndromes
Genetic disorders can cause serious diseases in humans and have a negative effect on our fertility. This can, for example, lead to impairment of the reproductive organs and even to miscarriages. Especially for those couples who have already suffered a few setbacks and are trying to get pregnant with medical help, the combination of reproductive medicine and genetics can contribute to the fulfillment of their desire to have children.
If you take a closer look at the genetic disorders mentioned at the beginning, the specialist literature shows two main causes which various genetic diseases can trigger.
A) Chromosomal aberrations
numerical and / or structural changes in the set of chromosomes
B) gene mutations
Changes in the genetic make-up in a gene, gene segment or in several genes
Syndromes due to Chromosomal aberration (Changes in the set of chromosomes)
- Klinefelter Syndrome
- Turner syndrome
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Wolf-Hirschhorn Syndrome
- Cat-eye syndrome
- Williams-Beuren Syndrome
- Prader-Willi Syndrome
- Angelman Syndrome
- Miller-Dieker Syndrome
- Smith-Magenis Syndrome
- Di George Syndrome
Diseases caused by Gene mutations (monogenetic or polygenetic disease)
- Cystic fibrosis (cystic fibrosis)
- Chorea huntington
- Duchenne muscular dystrophy
- Hemophilia A.
- Polycystic Kidney Disease
- Spinal muscular atrophy
- Myotonic dystrophy
- Sickle cell anemia
A) numerical changes
In genetic diseases due to chromosomal aberrations, a distinction is made between numerical and structural anomalies. These changes in the chromosomes are responsible for around half of all spontaneous miscarriages, for example.
Aneuploidy is a numerical abnormality, i.e. individual chromosomes are also present or missing.
B) structural changes
If the genetic disease is triggered by a structural chromosomal aberration, it can be a deletion, duplication, inversion, insertion or translocation.
With gene mutations, a change in the genetic material takes place in a gene, gene segment or in several genes and leads to so-called monogenetic or polygenetic diseases.
There are basically two possibilities with regard to the way in which a genetic disease is transmitted or occurs. Either this disease is already present in the family and is passed on to the offspring according to a certain principle (AD, AR, X-linked) (e.g. cystic fibrosis), or it occurs "spontaneously" and is thus a new one (e.g. down Syndrome).
Inheritance of monogenic diseases
This representation of the inheritance of monogenic diseases illustrates the risk of transmission of severe hereditary diseases to the offspring, caused by the mutation of a single gene.
AD = autosomal dominant inheritance | AR = autosomal recessive inheritance | X-linked = X-linked recessive inheritance
autosomal dominant inheritance
autosomal recessive inheritance
X-linked recessive inheritance
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