keyword
https://read.qxmd.com/read/9326232/the-two-common-mutations-causing-factor-xi-deficiency-in-jews-stem-from-distinct-founders-one-of-ancient-middle-eastern-origin-and-another-of-more-recent-european-origin
#21
COMPARATIVE STUDY
H Peretz, A Mulai, S Usher, A Zivelin, A Segal, Z Weisman, M Mittelman, H Lupo, N Lanir, B Brenner, O Shpilberg, U Seligsohn
Previous studies showed that factor XI (FXI) deficiency commonly observed in Ashkenazi Jews is caused by two similarly frequent mutations, type II (Glu117stop) and type III (Phe283Leu) with allele frequencies of 0.0217 and 0.0254, respectively. In Iraqi Jews, who represent the ancient gene pool of Jews, only the type II mutation was observed with an allele frequency of 0.0167. In this study we sought founder effects for each mutation by examination of four FXI gene polymorphisms enabling haplotype analysis in affected Jewish patients of Ashkenazi, Iraqi, and other origins and in Arab patients...
October 1, 1997: Blood
https://read.qxmd.com/read/9217214/correlation-between-the-incidence-of-myotonic-dystrophy-in-different-groups-in-israel-and-the-number-of-ctg-trinucleotide-repeats-in-the-myotonin-gene
#22
JOURNAL ARTICLE
R Mor-Cohen, N Magal, N Gadoth, T Shohat, M Shohat
Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed less frequently in Ashkenazic Jews and non-Jews than in North African and Yemenite Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these four groups. Alleles from 126 unrelated healthy North African Jews, 103 Yemenite Jews, 103 Ashkenazic Jews, and 106 Israeli Moslem Arabs were studied by PCR analysis of the trinucleotide repeat in the DM gene, and the size distribution of the CTG repeat was determined...
August 8, 1997: American Journal of Medical Genetics
https://read.qxmd.com/read/8800925/machado-joseph-disease-correlation-between-the-clinical-features-the-cag-repeat-length-and-homozygosity-for-the-mutation
#23
JOURNAL ARTICLE
I Lerer, D Merims, D Abeliovich, J Zlotogora, N Gadoth
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a CAG trinucleotide repeat in the MJD1 gene located on 14q32.1. We confirmed that the CAG expansion caused MJD in a Yemenite Jewish family and demonstrated that most of the clinical variation among members of this family was due to the genotype of the affected individuals. Six patients who presented with an early onset (25 years) and severe disorder were found to be homozygous for the CAG expansion...
1996: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/8296789/a-new-deletional-alpha-thalassemia-detected-in-yemenites-with-hemoglobin-h-disease
#24
JOURNAL ARTICLE
L Shalmon, C Kirschmann, R Zaizov
A new large deletion from the human alpha-globin gene cluster is characterized. It involves at least 39 kb and includes the two alpha-globin genes, the theta 1-gene, all the pseudogenes, and the two hypervariable regions (HVRs), interzeta-HVR and alpha-globin 3'HVR. The conserved zeta-globin gene has been identified in various restriction fragments of abnormal size. The new deletion was found in four unrelated Israeli patients with Hb H disease, all originating in Yemen, and has been designated--YEM. It is the only two-gene deletion identified in this ethnic group...
March 1994: American Journal of Hematology
https://read.qxmd.com/read/7801999/arylsulfatase-a-pseudodeficiency-a-common-polymorphism-which-is-associated-with-a-unique-haplotype
#25
COMPARATIVE STUDY
J Zlotogora, Y Furman-Shaharabani, S Goldenfum, B Winchester, K von Figura, V Gieselmann
The allele for pseudodeficiency (PD) of the lysosomal enzyme arylsulfatase A (ARSA) is a common polymorphism in all populations. The PD allele frequency in different Israeli ethnic groups was found to range from 9.2-22.7%. The PD allele includes two different mutations PD(1) and PD(2) in an approximately 1 Kb interval. In this study we confirmed that while PD(1) may be found alone as a polymorphism, PD(2) is always associated with the PD allele (660 alleles screened). Analysis of three ARSA intragenic polymorphisms showed a complete linkage disequilibrium between the PD allele and an haplotype defined by the three polymorphic restriction sites...
August 15, 1994: American Journal of Medical Genetics
https://read.qxmd.com/read/7749412/molecular-basis-of-late-infantile-metachromatic-leukodystrophy-in-the-habbanite-jews
#26
JOURNAL ARTICLE
J Zlotogora, G Bach, C Bösenberg, Y Barak, K von Figura, V Gieselmann
Late infantile metachromatic leukodystrophy (MLD) is a neurodegenerative disease, most commonly caused by the deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Late infantile MLD is frequent (1/75 live birth) in a small Jewish community which lived in Habban, isolated from the other Jewish populations. The gene coding for ARSA was sequenced in one of the Habbanite patients, who was found to be homozygous for an allele having three mutations. Two mutations are A to G transitions in the ARSA gene at positions 1788 and 2723, causing the loss of an N-glycosylation site and a polyadenylation signal, respectively...
1995: Human Mutation
https://read.qxmd.com/read/7539209/mutations-in-the-slc3a1-transporter-gene-in-cystinuria
#27
JOURNAL ARTICLE
E Pras, N Raben, E Golomb, N Arber, I Aksentijevich, J M Schapiro, D Harel, G Katz, U Liberman, M Pras
Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients. In this report we describe four additional cystinuria-associated mutations in this gene: a frameshift, a deletion, a transversion inducing a critical amino acid change, and a nonsense mutation...
June 1995: American Journal of Human Genetics
https://read.qxmd.com/read/7346047/duffy-kell-and-p-blood-group-systems-in-some-jewish-populations-of-israel
#28
JOURNAL ARTICLE
E Kobyliansky, S Micle, M Goldschmidt-Nathan, B Arensburg, H Nathan
Duffy, Kell and P blood group systems were investigated in 977 Israeli Jews. Six groups deriving from Eastern, Central and Southern Europe, the Middle East, North Africa and Yemen were compared. The greatest differences between the groups occurred with regard to the Duffy blood group system, where the Fy gene was found at great frequency (0.5879) in the Yemenite Jews, a middling frequency (from 0.1083 to 0.2191) in Jews from the Middle East, North Africa and Southern Europe, and a low frequency of the Fya gene decreased in the following order: East European greater than Central European greater than South European greater than North African greater than Middle Eastern greater than Yemenite group...
1980: Acta Anthropogenetica
https://read.qxmd.com/read/6957391/genetic-distance-between-jews-and-non-jews-of-four-regions
#29
COMPARATIVE STUDY
A K Roychoudhury
No abstract text is available yet for this article.
1982: Human Heredity
https://read.qxmd.com/read/6802064/jewish-populations-of-the-world-genetic-likeness-and-differences
#30
JOURNAL ARTICLE
E Kobyliansky, S Micle, M Goldschmidt-Nathan, B Arensburg, H Nathan
In six Jewish populations from Eastern, Central and Southern Europe, the Middle East, North Africa and Yemen, the frequencies of 30 genes from 13 loci were determined. The calculation of genetic distances between these populations as well as a cluster analysis were done. The gene frequencies of these six populations were computed together with those of 19 other Jewish populations of diverse countries described in the literature. Of the 19 populations, 22 alleles from 10 loci were checked. Gene frequencies in autochthonous, non-Jewish populations from these countries were also computed...
January 1982: Annals of Human Biology
https://read.qxmd.com/read/6432728/the-distribution-of-abo-mnss-rhesus-kell-duffy-and-kidd-blood-groups-of-jews-originating-from-20-countries
#31
JOURNAL ARTICLE
C Levene, J H Medalie, Y Friedlander, T Cohen
The distribution of red blood cell antigens of 10,000 Jewish Israeli men are presented by their country of birth. The ABO, MNSs, Rh, Kell, Duffy and Kidd blood groups were examined, and their frequencies were analyzed for each of 20 countries of birth. These results can serve as control and reference data for various studies, both basic and applied, concerning Jewish communities. The data are shown in various ways: phenotype and allele frequencies are presented alphabetically by countries of birth, and the allele frequencies are also shown by lowest to highest frequencies among the communities...
June 1984: Israel Journal of Medical Sciences
https://read.qxmd.com/read/6268125/phosphoglucomutase-adenylate-kinase-and-acid-phosphatase-polymorphism-in-some-jewish-populations-of-israel
#32
JOURNAL ARTICLE
E Kobyliansky, S Micl'e, M Goldschmidt-Nathan, B Arensburg, H Nathan
The phosphoglucomutase (PGM1) adenylate kinase (AK1) and acid phosphatase (ACP1) phenotypes were studied in Israeli Jews. In total 934 individuals were investigated for AK1 and of these, 926 for PGM1 and 768 for ACP1 isozymes. From the studied individuals, six groups deriving from Eastern, Central and Southern Europe, the Middle East, North Africa and Yemen were formed. The comparison of the phenotype distribution in these groups by the chi-square test failed to indicate any statistically significant differences with respect to PGM1 phenotypes...
1980: Acta Anthropogenetica
https://read.qxmd.com/read/6262215/phosphoglycolate-phosphatase-in-several-population-groups-in-israel
#33
JOURNAL ARTICLE
R Golan, J Ben-Ezzer, A Szeinberg
The genetic polymorphism of phosphoglycolate phosphatase (PGP) found in red blood cells has been investigated in several population groups in Israel: Ashkenazi Jews, non-Ashkenazi Jews from Iraq, Yemen, Turkey, Iran, Balkan, North Africa and Arabs. The distribution of the PGP genes was not homogeneous (chi 2 = 40.545; d.f. = 20; p less than 0.005). The PGP2 gene frequency varied between 0.0185 in the Yemenite and 0.0688 in the Iranian Jews. PGP3 gene frequency ranged between 0.0062 in the Iranian and 0.0547 in the Moroccan Jews...
1981: Human Heredity
https://read.qxmd.com/read/6107044/metachromatic-leukodystrophy-in-the-habbanite-jews-high-frequency-in-a-genetic-isolate-and-screening-for-heterozygotes
#34
JOURNAL ARTICLE
J Zlotogora, G Bach, Y Barak, E Elian
A very high incidence of late infantile metachromatic leukodystrophy (MLD) (1/75 live births) was found in the Jewish Habbanite community which constitutes a genetic isolate of about 1,000-1,200 individuals. Screening in this population for aryl sulfatase A (ASA) levels in married adults revealed a carrier frequency for MLD of 17% and identified six couples of whom both partners were heterozygotes (6% of screened couples). In three pregnancies of these couples, prenatal diagnosis for the detection of ASA in the fetus was performed...
September 1980: American Journal of Human Genetics
https://read.qxmd.com/read/4670074/red-cell-glutamic-pyruvic-transaminase-polymorphism-in-several-population-groups-in-israel
#35
COMPARATIVE STUDY
M Lahav, A Szeinberg
No abstract text is available yet for this article.
1972: Human Heredity
https://read.qxmd.com/read/4371129/the-inherited-blood-factors-of-the-inhabitants-of-southern-arabia
#36
JOURNAL ARTICLE
A J Marengo-Rowe, K Aviet, M J Godber, A C Kopeć, A E Mourant, D Tills, B J Woodhead
No abstract text is available yet for this article.
July 1974: Annals of Human Biology
https://read.qxmd.com/read/3653904/genetic-polymorphism-of-delta-aminolevulinate-dehydrase-in-several-population-groups-in-israel
#37
JOURNAL ARTICLE
J Ben-Ezzer, H Oelsner, A Szeinberg
The genetic polymorphism of red cell delta aminolevulinate dehydrase (ALADH) has been investigated in several population groups in Israel: Ashkenazi Jews, non-Ashkenazi Jews from North Africa, Egypt, Turkey, Iraq, Iran, Yemen and the Balkans, and Arabs. The distribution of the ALADH genes was not homogeneous (chi 2 = 36.83; d.f. = 8; p less than 0.0005). A significantly higher frequency of the ALADH2 gene was observed among the Ashkenazi Jews (0.2021) than among the non-Ashkenazi Jews and Arabs (gene frequencies 0...
1987: Human Heredity
https://read.qxmd.com/read/3652491/hereditary-hypotrichosis-simplex-of-the-scalp
#38
JOURNAL ARTICLE
G Kohn, A Metzker
Hereditary hypotrichosis simplex of the scalp is a rare trait with onset in early childhood. This phenomenon has been reported only once previously, in a Spanish kindred. This communication describes a case in a Jewish-Yemenite kindred with 51 affected individuals and confirms autosomal dominant inheritance.
August 1987: Clinical Genetics
https://read.qxmd.com/read/3005192/human-growth-hormone-gene-deletion-without-antibody-formation-or-growth-arrest-during-treatment-a-new-disease-entity
#39
JOURNAL ARTICLE
Z Laron, M Kelijman, A Pertzelan, R Keret, J M Shoffner, J S Parks
Using restriction endonuclease analysis of genomic DNA hybridized to a human chorionic somatomammotropin (hCS) complementary (c)DNA probe, we studied four young Jewish patients with isolated growth hormone deficiency (IGHD), and 15 family members. One family originated in Iraq, two in Yemen and one in Iran. Each patient was homozygous for a deletion of approximately 7.5 kilobases, which included the hGH-N gene. Three of the deletions were associated with the same restriction fragment length polymorphism haplotype, while the deletion in the child of Iranian descent was associated with a different haplotype...
December 1985: Israel Journal of Medical Sciences
https://read.qxmd.com/read/2323771/generational-change-in-skin-color-variation-among-habbani-yemeni-jews
#40
JOURNAL ARTICLE
B Towne, F S Hulse
The Habbani Yemeni Jews were a religious isolate in Yemen for centuries. Since a bottleneck in the late eighteenth century the population, composed of six partrilineages, has steadily grown. Isonymy analysis of Habbani genealogies reveals a significant increase in lineage endogamy by the early twentieth century, suggesting that microdifferentiation of Habbani population genetic structure along the patrilineages was occurring. We examine reflectance data from a "parental" generation of 159 individuals studied by Hulse in the 1960s and reflectance data from an "offspring" generation of 243 individuals studied by Towne in the 1980s...
February 1990: Human Biology
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