Glossary

 

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.

 

 

 

 

 

More on CDMP1

 

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)