Clustering of multiallele DNA markers near the Huntington's disease gene.

MacDonald, Marcy E.; Cheng, Shirley V.; Zimmer, Michael; Haines, Jonathan L.; Poustka, Annemarie; Allitto, Bernice A.; Smith, Barbara A.; Whaley, William L.; Romano, Donna M.; Jagadeesh, Jaya

doi:10.1172/jci114222

Cited by 45 publications

(17 citation statements)

References 19 publications

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“…The D4S43 VNTR locus is located close to the Huntington’s disease gene on human chromosome 4 and consists of tandemly repeated GC-rich DNA sequences [22, 23]. Two variants of allele 1 were described by Zago et al [24].…”

Section: Resultsmentioning

confidence: 99%

Genetic Relationships among Japanese, Northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian Populations Based on Allelic Frequencies at Four VNTR (D1S80, D4S43, COL2A1, D17S5) and One STR (ACTBP2) Loci

Katsuyama

Inoko²,

Imanishi³

et al. 1998

Hum Hered

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The genetic polymorphism at four variable number of tandem repeats (D1S80, D4S43, COL2A1, D17S5) and one short tandem repeat (ACTBP2) loci was assessed by polymerase chain reaction analysis of genomic DNA obtained from blood samples of eight human populations (Japanese, Northern Han, Hui, Uygur, Kazakh, Saudi Arabian, Greek, Italian). Allele frequencies at all loci were in the Hardy-Weinberg equilibrium for each population. With the exception of ACTBP2, the allelic distribution patterns for these loci revealed a marked genetic divergence among the eight populations. A dendrogram constructed by the neighbor-joining method based on the allele frequencies of the five loci suggested that the five Asian populations (Japanese, Northern Han, Hui, Uygur, and Kazakh) formed one cluster, whereas the two European populations and one West Asian population (Italian, Greek, and Saudi Arabian) formed another. The genetic relationship among these populations may have been greatly influenced by admixture as a result of the migration of individuals along the Silk Road throughout history.

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Section: Resultsmentioning

confidence: 99%

Genetic Relationships among Japanese, Northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian Populations Based on Allelic Frequencies at Four VNTR (D1S80, D4S43, COL2A1, D17S5) and One STR (ACTBP2) Loci

Katsuyama

Inoko²,

Imanishi³

et al. 1998

Hum Hered

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“…DNA (5 pg) was digested with the appropriate enzymes, fractioned in 0.8%-1.6% agarose gels, transferred to nylon membrane and hybridized with the following probes labelled as described (Feinberg and Vogelstein 1983): pK082 and R7 (Gusella et al 1983 and F5.53 (Bakker et al 1987) from the D4S10 locus; pXP500 (a single copy subclone of pSma2.6), pKP1.65 and $1.5 (Gilliam et al 1987a;MacDonald et al 1989) from the D4S43 locus; BS674E-D ) from the D4S95 locus; BJ56PS18, a single copy probe recently mapped to the region 4p15.1-4pter (B. AUitto and J. F. Gusella, personal communication). Haplotype reconstruction was by visual inspection.…”

Section: Dna Typingmentioning

confidence: 99%

Epidemiological and linkage studies on Huntington's disease in Italy

et al. 1990

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The results of an epidemiological survey on Huntington's disease in the Lazio Region, Central Italy, and of linkage studies in a subset of families are reported. From a total of 99 ascertained families and 491 patients, a prevalence of 25.6 X 10(-6) was obtained, with distributions of age at onset and age at death similar to those described in the literature. No relationship with the sex of the transmitting parent was observed. Analysis of 10 chromosome 4 restriction fragment length polymorphisms in 11 families showed consistent linkage between the genetic loci D4S10, D4S43 and D4S95, and the disease. A recombination rate of 0.08 for D4S10 markers was obtained in this sample. Allelic frequencies of DNA markers in the general population are also reported.

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“…The following chromosome loci were used in the linkage study: D4S95, probe BS674 which detects AccI, MboI, and TaqI polymorphisms Smith et al, 1988); D4Slll, probe p157.9 which detects PstI polymorphism (MacDonald et al, 1989a;Whaley et al, 1988); D4Sl15, probe p252.3 which detects a PstI polymorphism (Bucan et al, 1990;Poustka et al, 1987).…”

Section: Methodsmentioning

confidence: 99%

“…ezuelan kindred and several smaller pedigrees from the U.S. and Europe, and was tightly linked to the other locus, with no recombinants in 179 informative meioses in reference pedigrees (MacDonald et al,, 1989a). Complementary genetic (MacDonald et al, 1989b;Youngman et al, 1989;Allito et al, 1991) and physical (Bucan et al, 1990) (Fig.…”

mentioning

confidence: 94%

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families

et al. 1993

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SummaryAttempts to isolate the Huntington disease (HD) gene based on its position have been frustrated by apparently contradictory recombination events in HD pedigrees that have predicted two non-overlapping candidate regions: 100 kb at the telomere of the short arm of chromosome 4, and a 2.2 Mb region located internally at 4p16.3. The proximal location is also supported by the detection of a linkage disequilibrium between HD and some restriction fragment length polymorphisms (RFLPs) at the D4S95, D4S98, and D4S127 loci. In the present study, a proximal marker D4S95 showed tight linkage to the disease locus in Japanese pedigrees (Zm~x=3.31, 0~=0.00), while distal markers D4Sl15 and D4SIll did not. Particularly, a two point linkage analysis between D4S-111 and HD yielded a lod score -2.01 for 0=0.015. This result leads to the exclusion, as a possible region of localization of the HD gene, of more than 3 cM of the genome around D4Slll locus. At the same time our results favor aforementioned proximal location as a candidate location for the HD gene. Keg WordsHuntington disease, linkage analysis, D4S95, D4Sl15, D4S 111Received March 30, 1993; Revised Accepted April 13, 1993

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Clustering of multiallele DNA markers near the Huntington's disease gene.

Cited by 45 publications

References 19 publications

Genetic Relationships among Japanese, Northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian Populations Based on Allelic Frequencies at Four VNTR (D1S80, D4S43, COL2A1, D17S5) and One STR (ACTBP2) Loci

Genetic Relationships among Japanese, Northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian Populations Based on Allelic Frequencies at Four VNTR (D1S80, D4S43, COL2A1, D17S5) and One STR (ACTBP2) Loci

Epidemiological and linkage studies on Huntington's disease in Italy

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families

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