Distribution of the CCR5 gene 32-base pair deletion in Israeli ethnic groups
The CCR5 gene mutation appears to occur in a high percentage of Ashkenazi Jews. This mutation protects people against HIV infection. The polymerase chain reaction was used to determine the frequency of the CCR5 mutation in DNA samples collected from 520 Israelis. Ten percent of the Ashkenazi Jews tested positive for the mutation compared to 2% of North African Jews, 1.3% of non-Jews, 1% of Middle Eastern Jews and none of the Ethiopian Jews. Other studies have found the frequency of this mutation to be as high as 21% in Ashkenazi Jews.
Publication Name: Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology
Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders
The most common syndrome resulting from genetic microdeletion is chromosome 22q11 deletion (del22q11), and it can cause a wide variety of clinical problems. It is estimated that it causes significant behavioral and psychiatric problems in up to 60% of the people with the syndrome. While there are some physcial characteristics which may be associated with the syndrome, they are variable, may be very subtle, leaving behavioral and psychiatric symptoms as the prime indicator.
Publication Name: Archives of Pediatrics & Adolescent Medicine
- Abstracts: A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA
- Abstracts: Changes in splenic size after abdominal trauma. Targeting toxic proteins for turnover. Chlorpromazine inhibits vesiculation, alters phosphoinositide turnover and changes deformability of ATP-depleted RBCs