Heritable fragile sites on human chromosomes XII. Population Cytogenetics

Gr, Sutherland

doi:10.1111/j.1469-1809.1985.tb01687.x

Cited by 84 publications

(71 citation statements)

References 7 publications

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“…Jenkins et al (1986) concluded (Sutherland, 1979b). Thus, they inhibit FS expression providing dTMP for incorporation into DNA during DNA synrhesis.…”

Section: Prenatal Diagnosis For Fragile Sitesmentioning

confidence: 99%

“…chromosome was detected. Sutherland (1985d) Jacobs et al, 1983). In a survey, Tumer et al (1980) found that 77o of the girls from schools for the miidly retarded carried the fra (X) (q27).…”

Section: Expression Of Fragile Sites In Ot}ier Cell Typesmentioning

confidence: 99%

“…This variation in frequencies might be due to ethnic differences between study gloups or differences in study methods (Sutherland, 1985d;Takahashi, 1988 (Sutherland, 1985d).…”

Section: Expression Of Fragile Sites In Ot}ier Cell Typesmentioning

confidence: 99%

“…The terms used to denote these sites a¡e "constitutive" (Daniel et al, l9g4;Yunis and Soreng, 1984) and "common" (Glover et al, 1984;Suthe¡land and Hecht 1985b), as well as ''hoçoints" (Zhou et al, 1984) and aurosomal "lesions,' (Sutherland, 1983 (Hecht, 1988) (Iable I and Table tr (Hecht, 1988 (Sutherland et aL, 1985c). Sutherland et al (1985c) (Sutherland, 1979b This increasing effect was highly significanr for sires at 2q13,20p11, XqZ7, bur nor for those 10q25, 11q13, 16p12 and 12q13 (Sutherland et al, 1981). The rare of folate uptake by cells was inversely proportion to pH and higher inuacellular levels of folate in a steady state situation have been found at lower pH of the culture medium (Branda et al, 1982 (Sutherland and Hinton, 1981 Jacky et al (1980) when sodium cirrare was used as the hypotonic agent instead of KCl.…”

mentioning

confidence: 99%

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Segregation analysis of rare autosomal folate sensitive fragile sites

1993

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We have studied 12 families with rare autosomal folate sensitive fragile sites (RAFSFS). Of these, 9 were informative for segregtion analysis of fragile sites in order to assess differences in parental transmission. We identified 20 families with RAFSFS from the literature from 1985 to 1989; thirteen of these were informativ for segregation analysis. Segregation analysis confirmed that paternal fragile site transmission rates deviated significantly from the expected 50% for a Mendelian co‐dominant trait. Sex ratio comparisons showed a significant excess of transmitting females and a significnt excess of males among fragile site non‐carriers from the literature families. Comparison of the fragile site carriers with non‐carriers in the combined data showed a non‐significant excess of non‐carriers. We confirmed a deficiency of offspring expressing fragile sites when trnsmission was through fathers, suggesting gametic selection or the phenomenon of parental genomic imprinting. © 1993 Wiley‐Liss, Inc.

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“…Jenkins et al (1986) concluded (Sutherland, 1979b). Thus, they inhibit FS expression providing dTMP for incorporation into DNA during DNA synrhesis.…”

Section: Prenatal Diagnosis For Fragile Sitesmentioning

confidence: 99%

Section: Expression Of Fragile Sites In Ot}ier Cell Typesmentioning

confidence: 99%

“…This variation in frequencies might be due to ethnic differences between study gloups or differences in study methods (Sutherland, 1985d;Takahashi, 1988 (Sutherland, 1985d).…”

Section: Expression Of Fragile Sites In Ot}ier Cell Typesmentioning

confidence: 99%

mentioning

confidence: 99%

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Segregation analysis of rare autosomal folate sensitive fragile sites

1993

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“…Reports on c-fra sites in Caucasians have included those induced by folic acid deprivation (Sutherland, 1979;Yunis and Soreng, 1984;Marlhens et al, 1986), by treatment with methotrexate (Barbi et al, 1984), fluorodeoxyuridine (Barbi et al, 1984;Daniel et aL, 1984;Yunis and Soreng, 1984;Rao et al, 1988), 5-bromodeoxyuridine , 5-azacytidine , caffeine (Yunis and Soreng, 1984), or aphidicolin (Glover, 1984;Craig-Holmes et al, 1987;Rao et aL, 1988). Little has been known of their individual or racial difference.…”

Section: Introductionmentioning

confidence: 99%

Common fragile sites induced by folate deprivation, BrdU and aphidicolin: Their frequency and distribution in Japanese individuals

et al. 1988

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The frequencies and distribution of common fragile sites in normal Japanese individuals were studied using lymphocyte chromosome preparations from cultures under folate deprivation, 5-bromodeoxyuridine (BrdU) or aphidicolin treatment. Defining the 4~ level of total breaks as a cut-off point, 13 folate-sensitive, 20 BrdU-induced and 8 aphidicolininduced sites were identified in one or more individuals studied. After eliminating overlapping, 28 fragile sites were identified. Of these, 23 have been reported, while the other five have not been described. Of the latter, those at 4q34 and 6q22 were each found in only one individual. The site at 3q26.2 has not been reported but one at 3q27 has been identified. Excluding these three sites as inconclusive, there remain two sites hitherto undescribed: 1) a folate-sensitive site at 17q21, found in two of eight individuals studied, and 2) a BrdU-requiring site at 13q31, found in five of eight individuals.

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Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

Mazurczak¹,

Bocian²,

Milewski³

et al. 1996

Am. J. Med. Genet.

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Results of cytogenetic studies, performed in a group of 201 institutionalized mentally retarded males, are presented. At least two cytogenetic methods for eliciting the Xq27.3 fragile site, recommended by the Fourth International Workshop on the Fra X Syndrome were used. A subgroup of 67 out of 201 studied males was also examined using molecular methods. In 6 (2.9%) males fra X syndrome was diagnosed. All cytogenetic positive results were confirmed by molecular analysis. Five patients had full expansion CGG repeats and one had both premutation and full mutation. Postulated frequency of fra X syndrome in Polish population being 0.2–0.4/1,000 males seems to be lower than it could be expected on the basis of previous literature data. © 1996 Wiley‐Liss, Inc.

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Heritable fragile sites on human chromosomes XII. Population Cytogenetics

Cited by 84 publications

References 7 publications

Segregation analysis of rare autosomal folate sensitive fragile sites

Segregation analysis of rare autosomal folate sensitive fragile sites

Common fragile sites induced by folate deprivation, BrdU and aphidicolin: Their frequency and distribution in Japanese individuals

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

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