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A genetic profile of contemporary Jewish populations

Abstract

The Jews are an ancient people with a history spanning several millennia. Genetic studies over the past 50 years have shed light on Jewish origins, the relatedness of Jewish communities and the genetic basis of Mendelian disorders among Jewish peoples. In turn, these observations have been used to develop genetic testing programmes and, more recently, to attempt to discover new genes for susceptibility to common diseases.

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Figure 1: Patterns of linkage disequilibrium based on time of origin of a disease mutation.

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Acknowledgements

I thank J. and S. Rudin for their support, L. Schiffman, N. Risch, C. Oddoux, S. Gross and two anonymous reviewers for their helpful comments.

Author information

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DATABASES

LocusLink 

BRCA1

BRCA2

CCR5

CFTR

DYT1

factor XI

GJB2

glucocerebrosidase locus

HBB

LDL receptor

LMAN1

MEFV

OCMD

PRNP 

OMIM 

11-hydroxylase deficiency

21-hydroxylase deficiency

β-thalassaemia

autosomal-recessive non-syndromic hearing loss

Bloom syndrome

Canavan disease

combined factors V and VIII deficiency

corticosterone methyl oxidase II deficiency

Creutzfeldt–Jakob disease

cystic fibrosis

factor VII deficiency

factor XI deficiency

familial dysautonomia

familial Mediterranean fever

Fanconi anaemia

Gaucher disease

glycogen storage disease type I

glycogen storage disease type III

idiopathic torsion dystonia

Laron dwarfism

mucolipidosis IV

Niemann–Pick disease

non-classical congenital adrenal hyperplasia

oculopharyngeal muscular dystrophy

Tay–Sachs disease

FURTHER INFORMATION

Chicago Center for Jewish Genetic Disorders

Genetic testing at NYU School of Medicine

ID Gene

JewishGen: The Home of Jewish Genealogy

Mazor Guide to Jewish Genetic Diseases

National Foundation for Jewish Genetic Diseases

Study of Jewish origins at NYU School of Medicine

Glossary

ADMIXTURE

Inter-population gene flow.

COALESCENCE

The joining of genetic lineages to common ancestors when they are traced backwards in time.

COMMON ERA

(C.E.). A neutral term for the period of time since the birth of Christ.

ENDOGAMY

Mating or marriage within a social or cultural unit.

GENETIC DRIFT

Random changes in allele frequency that result because the genes appearing in offspring are not a perfectly representative sample of the parental genes (for example, in small populations).

GENE FLOW

The movement of alleles between local populations owing to the migration of individuals.

HAPLOTYPE

A set of genetic markers present on one chromosome.

HUMAN LEUKOCYTE ANTIGEN

Protein present on the surface of white cells and most other cells in the body that allows the immune system to recognize self from non-self.

LINKAGE DISEQUILIBRIUM

(LD). The condition in which the frequency of a particular haplotype for two loci is significantly greater than that expected from the product of the observed allelic frequencies at each locus.

MICROSATELLITE

A class of repetitive DNA that is made up of repeats that are 2–8 nucleotides in length. They can be highly polymorphic and are frequently used as molecular markers in population genetics studies.

PENETRANCE

The proportion of genotypically mutant organisms that show the mutant phenotype. If all genotypically mutant individuals show the mutant phenotype, then the genotype is said to be completely penetrant.

PHRENOLOGY

The study of the conformation of the skull on the basis of the belief that it is indicative of mental faculties and character.

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Ostrer, H. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2, 891–898 (2001). https://doi.org/10.1038/35098506

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