Types
There are seven complementation groups, plus one variant form:
Type | Diseases Database | OMIM | Gene | Locus | Also known as/Description |
Type A, I, XPA | 29877 | 278700 | XPA | 9q22.3 | Xeroderma pigmentosum group A - the classical form of XP |
Type B, II, XPB | 29878 | 133510 | XPB | 2q21 | Xeroderma pigmentosum group B |
Type C, III, XPC | 29879 | 278720 | XPC | 3p25 | Xeroderma pigmentosum group C |
Type D, IV, XPD | 29880 | 278730 278800 | XPD ERCC6 | 19q13.2-q13.3, 10q11 | Xeroderma pigmentosum group D or De Sanctis-Cacchione syndrome (can be considered a subtype of XPD) |
Type E, V, XPE | 29881 | 278740 | DDB2 | 11p12-p11 | Xeroderma pigmentosum group E |
Type F, VI, XPF | 29882 | 278760 | ERCC4 | 16p13.3-p13.13 | Xeroderma pigmentosum group F |
Type G, VII, XPG | 29883 | 278780 133530 | RAD2 ERCC5 | 13q33 | Xeroderma pigmentosum group G and COFS syndrome type 3 |
Type V, XPV | 278750 | POLH | 6p21.1-p12 | Xeroderma pigmentosum variant - these patients suffer from mutation in a gene that codes for a specialized DNA polymerase called polymerase-η (eta). Polymerase-η can replicate over the damage and is needed when cells enter S-phase in the presence of a DNA-replication. |
Read more about this topic: Xeroderma Pigmentosum
Famous quotes containing the word types:
“The bourgeoisie loves so-called positive types and novels with happy endings since they lull one into thinking that it is fine to simultaneously acquire capital and maintain ones innocence, to be a beast and still be happy.”
—Anton Pavlovich Chekhov (18601904)
“Science is intimately integrated with the whole social structure and cultural tradition. They mutually support one otheronly in certain types of society can science flourish, and conversely without a continuous and healthy development and application of science such a society cannot function properly.”
—Talcott Parsons (19021979)
“Our children evaluate themselves based on the opinions we have of them. When we use harsh words, biting comments, and a sarcastic tone of voice, we plant the seeds of self-doubt in their developing minds.... Children who receive a steady diet of these types of messages end up feeling powerless, inadequate, and unimportant. They start to believe that they are bad, and that they can never do enough.”
—Stephanie Martson (20th century)