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Inheritance of Autosomal and SX Linked
Inheritance of Autosomal and SX Linked
1. Autosomal: the gene responsible for the phenotype is located on one of the 22 pairs
of autosomes (non-sex determining chromosomes).
2. X-linked: the gene that encodes for the trait is located on the X chromosome.
3. Dominant: conditions that are manifest in heterozygotes (individuals with just one
copy of the mutant allele).
4. Recessive: conditions are only manifest in individuals who have two copies of the
mutant allele (are homozygous).
5. Y-linked (holandric): the gene that encodes for the trait is located on the Y
chromosome
Autosomal dominant (AD)
Dominant conditions are expressed in individuals
who have just one copy of the mutant allele.
The Huntingtin gene (HTT=HD=IT15) on 4p16.3 provides the genetic information for a
protein that is also called "huntingtin". Expansion of a CAG triplet repeat stretch
within the Huntingtin gene results in a different (mutant) form of the protein, which
gradually damages cells in the brain, through mechanisms that are not fully understood.
The genetic basis of HD was discovered in 1993 by an international collaborative effort
spearheaded by the Hereditary Disease Foundation.
Huntington Disease
Increases in the number of repeats (and hence earlier age of onset and severity of
disease) in successive generations is known as genetic anticipation. Instability is
greater in spermatogenesis than oogenesis;
Individuals with more than sixty repeats often develop the disease before age 20, while
those with fewer than 40 repeats may not ever develop noticeable symptoms;
The largest risk is pneumonia, which causes death in one third of those with HD. As the
ability to synchronize movements deteriorates, difficulty clearing the lungs and an
increased risk of aspirating food or drink both increase the risk of contracting
pneumonia. The second greatest risk is heart disease, which causes almost a quarter of
fatalities of those with HD.[
Huntington Disease
Recommended (highly) to see what Huntington is all about
An excellent French documentary (subtitled in English) about a family carrying such a
genetic “burden”, including aspects of their life and expectancies
As a reminder, the disease has a complete penetrance (100%) make the disease, usually
after 35-40 years of age, and transmit it to their progenitors
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome)
is a cystic genetic disorder of the kidneys. There are two types of PKD: autosomal
dominant polycystic kidney disease (ADPKD) and the less-common autosomal recessive
polycystic kidney disease (ARPKD). Polycystic kidney disease is one of the most
common life-threatening genetic diseases, affecting an estimated 12.5 million people
worldwide.
Other AD conditions
Brachydactyly (short fingers/toes)
Polydactily (extra fingers/toes)
Syndactyly (two or more digits are fused together)
Adactyly (congenital absence of fingers and/or toes)
Chondrodysplasia Punctata
Hypophosphatemic rickets
= X-linked hypophosphatemia (XLH)
=Hypophosphatemic vitamin D-resistant rickets
(HPDR)
Amelogenesis imperfecta
X-linked Recessive
X-linked recessive traits are not clinically
manifest when there is a normal copy of the
gene.