Genetic
The D-BP gene (HSD17B4), found on the long arm of chromosome 5, consists of 24 exons and 23 introns and is over 100kb in size. Exons 1-12 code for the SDR domain, 12-21 for the hydratase domain, and 21-24 for the SCP2 domain. Transcription is regulated at 400 basepairs upstream of the transcription start site.
The missense mutation G16S is the most common mutation that leads to D-BP deficiency. In a 2006 study in which 110 patients were tested, 28 suffered from this frameshift mutation. The second most frequent mutation was the missense mutation N457Y which was seen in 13 of the 110 patients. Type I patients showed only deletions, insertions, and nonsense mutations were identified, most leading to shortened polypeptides. Most type II patients show missense mutations in D-BP hydratase unit as well as some in-frame deletions. Type III individuals commonly show missense mutations in the coding region of the dehydrogenase domain.
Read more about this topic: D-bifunctional Protein Deficiency
Famous quotes containing the word genetic:
“Man is not merely the sum of his masks. Behind the shifting face of personality is a hard nugget of self, a genetic gift.... The self is malleable but elastic, snapping back to its original shape like a rubber band. Mental illness is no myth, as some have claimed. It is a disturbance in our sense of possession of a stable inner self that survives its personae.”
—Camille Paglia (b. 1947)
“We cannot think of a legitimate argument why ... whites and blacks need be affected by the knowledge that an aggregate difference in measured intelligence is genetic instead of environmental.... Given a chance, each clan ... will encounter the world with confidence in its own worth and, most importantly, will be unconcerned about comparing its accomplishments line-by-line with those of any other clan. This is wise ethnocentricism.”
—Richard Herrnstein (1930–1994)
“What strikes many twin researchers now is not how much identical twins are alike, but rather how different they are, given the same genetic makeup....Multiples don’t walk around in lockstep, talking in unison, thinking identical thoughts. The bond for normal twins, whether they are identical or fraternal, is based on how they, as individuals who are keenly aware of the differences between them, learn to relate to one another.”
—Pamela Patrick Novotny (20th century)