Carpals-the eight small bones that
comprise the wrist joint
Carrier-Individual who doesn’t
display the symptoms of a disease, but harbors the pathogen which causes it or
has the gene for it and can transmit the disease to others by passing the
disease causing gene to offspring.
Dysplasia-abnormal development of
tissues. In disease alternation of
size, shape, and organization of mature cells.
Frameshift Mutation-one or more paired
nucleotides are inserted or deleted in coding region of a gene, which causes
the triplet codons to be read in the wrong frame of the entire sequence
downstream of the mutation, the resulting polypeptide has a garbled amino acid
sequence from the mutated codon on. May
be induced by mutagens or spontaneously.
Homozygous Recessive-contains two copies of the
same allele. The recessive alleles are
only expressed phenotypically in the homozygous form.
Metacarpals-five cylindrical bones extending
from the wrist to the fingers
Phalanges-the finger bone, there are
three phalanges in each digit except for the thumb which only has two.
The Cartilage- derived morphogenic protein, CDMP1,
also known as growth differentiation factor 5 (gdf5) belongs to the
transformation growth factor beta family.
The CDMP1 Gene is found at 20q11.2 in the human. Its expression is limited to the
appendicular skeleton. The expression
comes about by dimer formation through sulfide bonds. CDMP1 can also form nonfunctional heterodimers if they are
mutated. Theses heterodimers prevent
the proper signaling of BMPs (signaling molecules)