Prevalence of Bloom Syndrome Heterozygotes among Ashkenazi Jews

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

BACKGROUND Fanconi anemia complementation group C and Bloom syndrome, rare autosomal recessive disorders marked by chromosome instability, are especially prevalent in the Ashkenazi* Jewish community. A single predominant mutation for each has been reported in Ahshkenazi Jews: c.711+4A-->T (IVS4 +4 A-->T) in FACC and BLM(Ash) in Bloom syndrome. Individuals affected by either of these syndromes a...

HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews.

OBJECTIVE To look for HLA class II alleles and haplotypes conferring susceptibility to multiple sclerosis (MS) in the Jewish population of Israel. DESIGN Population-based cohort of clinically definite patients with MS tested prospectively over 7 years. SETTING Referral center in a neurology clinic at a university hospital in the greater Jerusalem area in Israel. PATIENTS A total of 162 co...

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

U sher syndrome (USH) is an autosomal recessive disorder comprising of bilateral sensorineural hearing loss, progressive loss of vision due to retinitis pigmentosa (RP), and variable vestibular dysfunction. It is the most frequent cause of deafness and concurrent blindness in schools for the deaf-blind, with a prevalence of 1/16 000 to 1/ 50 000 in various populations. The majority of Usher syn...

Familial Mediterranean fever in Ashkenazi Jews.

Factor XI mutation and the origin of Ashkenazi Jews.

1. Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, et al. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica 2008; 93:715-21. 2. Rodriguez-Mari A, Diaz-Font A, Chabas A, Pastores GM, Grinberg D, Vilageliu L....