Direct sequencing of affinity‐captured amplified human DNA application to the detection of apolipoprotein E polymorphism

Syvänen, Ann‐Christine; Aalto‐Setälä, Katriina; Kontula, Kimmo; Söderlund, Hans

doi:10.1016/0014-5793(89)81618-7

Cited by 67 publications

(20 citation statements)

References 20 publications

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“…DNA sequencing was carried out using a solid-phase method essentially as described by Syvänen et al (1989) using the T7 Sequenase kit, version 2.0 (US Biochemicals, Cleveland, OH).…”

Section: Solid-phase Sequencingmentioning

confidence: 99%

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

et al. 1998

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“…DNA sequencing was carried out using a solid-phase method essentially as described by Syvänen et al (1989) using the T7 Sequenase kit, version 2.0 (US Biochemicals, Cleveland, OH).…”

Section: Solid-phase Sequencingmentioning

confidence: 99%

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

et al. 1998

Self Cite

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“…The PCR primers used were 3551, which was 5'-biotin-labeled during it's synthesis, and 5'-TCC-TGA-GCA-GTC-AGC-CCG-CG-3' (3523). The HPRT cDNA was sequenced in three overlapping fragments using solid-phase sequencing (Syv~inen et al 1989) with the sequencing primers 3523, 5'-ACA-TTG-TAG-CCC-TCT-GTG-TG-3' (3525), and 5'-TGA-CAC-TGG-CAA-AAC-AAT-GCA-G-3' (3524). The sequencing products were electrophoresed through a 5% denaturating polyacrylamide gel; the gel was dried and subjected to autoradiography.…”

Section: Sequencing Of the Hprt Coding Regionmentioning

confidence: 99%

Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree.

Pekkarinen¹,

Terwilliger²,

Bredbacka³

et al. 1995

Genome Res.

136

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An X-chromosomal predisposing locus to manic-depressive illness has been suggested since 1969 on the basis of the cosegregation of this trait in some families with phenotypic markers, such as color blindness, the glucose-6-phosphate dehydrogenase deficiency, and the coagulation factor IX deficiency. However, the conclusive evidence and the exact location of the putative X-chromosomal locus have remained controversial. We report here a linkage between DNA markers near the coagulation factor IX gene and bipolar disorder in an extended pedigree rising from the genetically isolated population of Finland. A distinct chromosomal hapiotype covering a 20-cM region on Xq24-q27.1 could be demonstrated to segregate with bipolar disorder. These findings should encourage research groups to study extended family materials with Xq24-q27.1 markers to finally resolve the question of the X-chromosomal linkage of bipolar disorder.Bipolar disorder (BP) belongs to a group of affective disorders, which are psychiatric illnesses causing abnormal mood. Bipolar disorder is characterized by episodes of mania (BPI) or hypomania (BPII) and depression. During the episodes, patients experience changes in sleep, appetite, and sexual behavior and abnormalities of endocrine and chronobiological systems. BP aggregates in families, and, in addition to BP, these families frequently show cases of unipolar disorder and schizoaffective disorder (Weissman et al. 1984;Winokur et al. 1995). These three seem to represent different disorders, but they probably share some etiological factors. The lifetime prevalence of BP is 0.6%-1.2% and it is not influenced by sex or race (for review, see Goodwin and Jarnison 1990). The onset of the disorder typically occurs at young adulthood and results in impaired interpersonal, social, and occupational functioning. As many as one-third of the patients have chronic symptoms and evidence of social decline (for review, see Goodwin and Jamison 1990).The etiology of BP is unknown, but twin studies have evidenced the significance of ge3Corresponding author. E-MAIL petra.pekkarinen@ktl.fi; FAX 358 0 4744 480.

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“…Yet, only scarce information is available on the status of breast cancer susceptibility genes in low-risk populations, which might reflect bona fide low mutation rates or underreporting. Several cases of the 185delAG germline mutation in Jewish-Iraqi fami lies with breast and ovarian cancer have already been reported [5,6], In our Oncogenetics Clinic, the same was performed for PCR fragments that consistently displayed abnor mal migration patterns on heteroduplex analysis, with the use of a biotinylated primer [13]. Haplotype analysis used 3 markers intra genic to the BRCA1 gene: D17S855, D17S1322, D17S1323.…”

Section: Introductionmentioning

confidence: 99%

Could the 185delAG BRCA1 Mutation Be an Ancient Jewish Mutation?

Bar-Sade¹,

Theodor²,

Gak³

et al. 1997

Eur J Hum Genet

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Direct sequencing of affinity‐captured amplified human DNA application to the detection of apolipoprotein E polymorphism

Cited by 67 publications

References 20 publications

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree.

Could the 185delAG BRCA1 Mutation Be an Ancient Jewish Mutation?

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