Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

2008 ◽  
Vol 28 (3) ◽  
pp. 236-241 ◽  
Author(s):  
Fuad Fares ◽  
Khader Badarneh ◽  
Mohamed Abosaleh ◽  
Amalia Harari-Shaham ◽  
Roni Diukman ◽  
...  
Keyword(s):  
Carrier Frequency ◽  
Jewish Population ◽  
Autosomal Recessive ◽  
Ashkenazi Jewish ◽  
Autosomal Recessive Disorders ◽  
Ashkenazi Jewish Population ◽  
Recessive Disorders

scholarly journals Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

Blood ◽  
1995 ◽  
Vol 86 (11) ◽  
pp. 4034-4038 ◽  
Author(s):  
PC Verlander ◽  
A Kaporis ◽  
Q Liu ◽  
Q Zhang ◽  
U Seligsohn ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Carrier Frequency ◽  
Jewish Population ◽  
Genomic Structure ◽  
Autosomal Recessive Disorder ◽  
Amplification Refractory Mutation System ◽  
Ashkenazi Jewish ◽  
Coding Region ◽  
Ashkenazi Jewish Population ◽  
Fanconi Anemia Gene

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous autosomal recessive disorder defined by a cellular hypersensitivity to DNA cross-linking agents. One of the FA genes, FAC, has been cloned and the genomic structure of the coding region has been characterized. We have developed amplification refractory mutation system (ARMS) assays for five known mutations in FAC, and have applied these assays to determine the carrier frequency of the IVS4 + 4 A-->T (IVS4) mutation in an Ashkenazi Jewish population. We tested 3,104 Jewish individuals, primarily of Ashkenazi descent, for the two most common FAC mutations, IVS4 and 322delG. Thirty-five IVS4 carriers were identified, for a carrier frequency of 1 in 89 (1.1%; 95% confidence interval 0.79% to 1.56%); no 322delG carriers were found. To determine if the IVS4 mutation was confined to the Ashkenazi Jewish population, we tested 563 Iraqi Jews for IVS4, and no carriers were found. Because the IVS4 mutation has only been found on chromosomes of Ashkenazi Jewish origin and is the only FAC mutation found on these chromosomes, we suggest that a founder effect is responsible for the high frequency of this mutation. With a carrier frequency greater than 1% and simple testing available, the IVS4 mutation merits inclusion in the battery of tests routinely provided to the Jewish population.

A founder mutation inCOL4A3causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

2013 ◽  
Vol 86 (2) ◽  
pp. 155-160 ◽  
Author(s):  
B.D. Webb ◽  
T. Brandt ◽  
L. Liu ◽  
C. Jalas ◽  
J. Liao ◽  
...  
Keyword(s):  
Jewish Population ◽  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Founder Mutation ◽  
Ashkenazi Jewish ◽  
Ashkenazi Jewish Population

scholarly journals The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

2001 ◽  
Vol 119 (4) ◽  
pp. 146-149 ◽  
Author(s):  
Roberto Rozenberg ◽  
Lygia da Veiga Pereira
Keyword(s):  
Carrier Frequency ◽  
Jewish Population ◽  
Screening Program ◽  
Disease Incidence ◽  
Carrier Screening ◽  
Restriction Enzyme Digestion ◽  
Ashkenazi Jewish ◽  
Screening Programs ◽  
Ashkenazi Jewish Population ◽  
Tay Sachs Disease

CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

scholarly journals Carrier frequency of autosomal recessive disorders (BC, BLAD, FXID and CVM) in Holstein cows in Jalisco, Mexico

2019 ◽  
Vol 39 (7) ◽  
pp. 481-484
Author(s):  
Abraham Virgen-Méndez ◽  
Miguel A. Ayala-Valdovinos ◽  
Jorge Galindo-García ◽  
David R. Sánchez-Chiprés ◽  
Clemente Lemus-Flores ◽  
...  
Keyword(s):  
Carrier Frequency ◽  
Autosomal Recessive ◽  
Holstein Cows ◽  
Autosomal Recessive Disorders ◽  
Recessive Disorders

α-Catulin maps to the familial dysautonomia region on 9q31

Genome ◽  
2001 ◽  
Vol 44 (6) ◽  
pp. 990-994
Author(s):  
Paula C Demacio ◽  
Peter N Ray
Keyword(s):  
Jewish Population ◽  
Autosomal Recessive ◽  
Familial Dysautonomia ◽  
Base Change ◽  
Candidate Region ◽  
Sequence Variant ◽  
Sequence Variants ◽  
Ashkenazi Jewish ◽  
Causative Gene ◽  
Ashkenazi Jewish Population

Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of α-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, α-catulin is unlikely to be the causative gene in this disease.Key words: familial dysautonomia, α-catulin, sequence variant.

Appendix

2011 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst ◽  
Judith G. Hall
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Carrier Frequency ◽  
Autosomal Recessive ◽  
Bayes Theorem ◽  
Carrier Testing ◽  
Behavioural Pattern ◽  
Autosomal Recessive Disorders ◽  
Recessive Disorders

Bayes’ theorem 646Behavioural pattern profile (Shalev and Hall 2004) 648Carrier frequency and carrier testing for autosomal recessive disorders 650Centile charts for boys height and weight 652Centile charts for girls height and weight 656Centile charts for occipital-frontal circumference (OFC) 660CK (Creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD) ...

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