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  • 1
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The MEN2A syndrome is characterized by one or more of three types of tumours: medullary thyroid cancer (MTC), phaeo-chromocytomas (PHEOs) and parathyroid adenomas, of which MTC is both the most frequent and most aggressive. MTC and its presumed precursor, C-cell hyperplasia, are commonly detec- ...
    Type of Medium: Electronic Resource
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  • 2
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    Baltimore : Periodicals Archive Online (PAO)
    Human Biology. 63:6 (1991:Dec.) 775 
    ISSN: 0018-7143
    Topics: Biology
    Notes: Symposium Articles: Organized and edited by Carlos E.A. Coimbra, Jr.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphic Alu insertion that occurs within the 8th intron of the tissue plasminogen activator gene (PLAT). This Alu is a member of a recently derived subfamily of Alu elements that has been expanding during human evolution and continues to be transpositionally active. We used a “population tube” approach to screen 10 chromosomes from each of 19 human populations for presence or absence of this Alu in the PLAT locus and found that all tested populations are dimorphic for presence/absence of this insertion. We show that the previously published EcoRI, HincII, PstI, TaqI, and XmnI polymorphisms at the PLAT locus all result from insertion of this Alu and we use both restriction fragment length polymorphism and polymerase chain reaction analysis to examine the frequency of Alu(+) and Alu(–) alleles in a sample of 1003 individuals from 27 human populations and in 38 nonhuman primates. Nonhuman primates are monomorphic for the Alu(–) allele. Human populations differ substantially in allele frequency, and in several populations both alleles are common. Our results date the insertion event prior to the spread and diversification of modern humans.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 759-764 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphicAlu insertion that occurs within the 8th intron of the tissue plasminogen activator gene (PLAT). ThisAlu is a member of a recently derived subfamily ofAlu elements that has been expanding during human evolution and continues to be transpositionally active. We used a “population tube” approach to screen 10 chromosomes from each of 19 human populations for presence or absence of thisAlu in the PLAT locus and found that all tested populations are dimorphic for presence/absence of this insertion. We show that the previously publishedEcoRI,HincII,PstI,TaqI, andXmnI polymorphisms at the PLAT locus all result from insertion of thisAlu and we use both restriction fragment length polymorphism and polymerase chain reaction analysis to examine the frequency ofAlu(+) andAlu(−) alleles in a sample of 1003 individuals from 27 human populations and in 38 nonhuman primates. Nonhuman primates are monomorphic for theAlu(−) allele. Human populations differ substantially in allele frequency, and in several populations both alleles are common. Our results date the insertion event prior to the spread and diversification of modern humans.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 677-680 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Abnormalities in monoamine metabolism, including serotonin metabolism, have been implicated in the pathophysiology of affective disorders, schizophrenia, suicide, and other psychiatric disorders. Serotonin transporter protein (SERT) allows neurons to retrieve serotonin that has been released into a synapse. SERT is a site of action for several drugs with CMS effects, including both therapeutic agents (e.g., antidepressants) and drugs of abuse (e.g., cocaine). This gene had previously been physically mapped to chromosome 17. We used a PCR product corresponding to the 3′ untranslated region of the gene as a probe to identify restriction fragment length polymorphism (RFLP), which we then used to establish that the SLC6A4, genetic locus for SERT, is near 17q12 and probably flanked by D17S58 and D17S73 (a location consistent with observed crossovers). These data should be useful for linkage studies of neuropsychiatric disorders. (Joyce et al. 1993). Neurotransmitter reuptake sites (including also the norepinephrine transporter protein and the dopamine transporter protein) are logical candidate genes for susceptibility to psychiatric illness. We have previously (Gelernter et al. 1993) mapped the norepinephrine transporter protein to chromosome 16q21. We describe here linkage mapping of the serotonin transporter protein gene (gene symbol SLC6A4, for “solute carrier family 6 (neurotransporter, serotonin), member 4”), which was cloned in 1991 (Blakely et al. 1991; Hoffman et al. 1991) and previously assigned to chromosome 17, most likely to band 17q11.2, by in situ hybridization (Ramamoorthy et al. 1993). Our linkage results confirm the initial mapping of SLC6A4 and place it in the linkage map of proximal 17q.
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The dopamine D4 receptor gene (DRD4) has an expressed polymorphism in the third exon that may have functional relevance. The polymorphism exists at two levels. At the higher level there is an imperfect tandem repeat of 48 base pairs (bp) coding for 16 amino acids; alleles have been identified with 2 (32 amino acids) to 10 (160 amino acids) repeats. The imperfect nature of the repeats is responsible for a more subtle level of variation since alleles with the same number of repeats can differ in the exact sequences or in the order of the variants of the 48-bp unit. We have undertaken a global survey of this expressed polymorphism as one approach to understanding the evolutionary significance and origins of the polymorphism as well as understanding what selective forces, if any, may be operating at this locus. As the first step, we have determined the repeat number genotype of the DRD4 repeat polymorphism in 1,327 individuals from 36 different populations. The allele frequencies differ considerably among the different populations. The 4-repeat allele was the most prevalent (global mean allele frequency = 64.3%) and appeared in every population with a frequency ranging from 0.16 to 0.96. The 7-repeat allele was the second most common (global mean = 20.6%), appearing quite frequently in the Americas (mean frequency = 48.3%) but only occasionally in East and South Asia (mean frequency = 1.9%). The 2-repeat allele was the third most common (global mean frequency = 8.2%) and was quite frequent in East and South Asia (mean frequency = 18.1%) while uncommon in the Americas (mean frequency = 2.9%) and Africa (mean frequency = 1.7%). The universality of the polymorphism with only three common repeat-number alleles (4, 7, and 2) indicates that the polymorphism is ancient and arose before the global dispersion of modern humans. The diversity of actual allele frequencies for this expressed polymorphism among different populations emphasizes the importance of population considerations in the design and interpretation of any association studies carried out with this polymorphism.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Behavior genetics 11 (1981), S. 49-56 
    ISSN: 1573-3297
    Keywords: Macaca radiata ; macaques ; bonnett monkeys ; laterality ; handedness ; degree of handedness ; genetics of handedness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Psychology
    Notes: Abstract Handedness and its possible inheritance have been studied in a colony of 69Macaca radiata by observation of hand usage during daily feeding and foraging activities. Each animal was observed for the number of right- and left-handed actions made during two tasks: feeding and searching. Individual animals fell into one of three classes: significantly right-handed, significantly left-handed, and no significant preference. For analysis, handedness was considered as both a directional phenomenon (percentage right-handed usage) and a degree phenomenon (absolute deviation from 50∶50 hand usage). Feeding and searching were significantly correlated for both direction and degree. Therefore, laterality for handedness does exist in this primate species. A developmental aspect to laterality was suggested by the positive correlation of degree with age. No mother-offspring correlations were found for either direction or degree and half-sibships were not more similar for either. Thus, there is no evidence for a genetic component to either direction or degree of handedness.
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