Abstract：
:Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we performed a genomewide search to map the JH locus in nine families: six consanguineous and three with multiple affected patients. This strategy allowed us to identify the JH locus on the long arm of chromosome 1. A maximum LOD score of 5.75 at a recombination fraction of 0 was detected with marker D1S498, and a LOD score of 5. 16 at a recombination fraction of 0 was detected for marker D1S2344. Homozygosity mapping in consanguineous families defined the limits of the candidate region in an approximately 4-cM interval between markers D1S442 and D1S2347. Analysis of genes mapped in this interval excluded obvious candidates. The JH locus does not correspond to the chromosomal localization of any known gene involved in iron metabolism. These findings provide a means to recognize, at an early age, patients in affected families. They also provide a starting point for the identification of the affected gene by positional cloning.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Roetto A,Totaro A,Cazzola M,Cicilano M,Bosio S,D'Ascola G,Carella M,Zelante L,Kelly AL,Cox TM,Gasparini P,Camaschella Cdoi
10.1086/302379subject
Has Abstractpub_date
1999-05-01 00:00:00pages
1388-93issue
5eissn
0002-9297issn
1537-6605pii
S0002-9297(07)62284-8journal_volume
64pub_type
杂志文章abstract：:The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/505885
更新日期：2006-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/420856
更新日期：2004-05-01 00:00:00
abstract：:The highly polymorphic locus D2S3 is revealed by three single-copy probes from cosmid C1-5. These probes, 1-30, 1-32, and 2-96, collectively reveal seven restriction fragment length polymorphisms. Fifty-three of 56 unrelated individuals (93%) were heterozygous at one or more of the seven loci, making the compound locu...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-08-01 00:00:00
abstract：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302243
更新日期：1999-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1982-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/368263
更新日期：2003-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1992-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1982-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/323043
更新日期：2001-09-01 00:00:00
abstract：:Meiotic recombination is essential for the segregation of chromosomes and the formation of normal haploid gametes, yet we know very little about the meiotic process in humans. We present the first (to our knowledge) recombination maps for every autosome in the human male obtained by new immunofluorescence techniques f...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/382138
更新日期：2004-03-01 00:00:00
abstract：:Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2013.10.021
更新日期：2013-12-05 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/320122
更新日期：2001-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/303054
更新日期：2000-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/498853
更新日期：2006-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1978-07-01 00:00:00
abstract：:The genetics of African North Americans are complex amalgamations of various West and Central African peoples with modest gene flow from specific European and Amerindian peoples. A comprehensive understanding of African North American biohistory is a prerequisite for accurate interpretations of the ancestral genetics ...
journal_title：American journal of human genetics
pub_type： 评论,杂志文章
doi：10.1016/j.ajhg.2020.10.010
更新日期：2021-01-07 00:00:00
abstract：:The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions, interactions, and pathways. However, there are well over 1500 Mendelian disorders whose molecular basis remains unknown. At present, methods such as linkage analys...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2008.02.013
更新日期：2008-04-01 00:00:00
abstract：:A collection of 1,069 human PCR-based genetic markers has been developed, and their distribution over the 22 autosomes and the X chromosome has been determined. Each marker was developed around a short-tandem-repeat DNA sequence. The majority (85%) of the markers described here were selected to contain tetranucleotide...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-09-01 00:00:00
abstract：:Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：:A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutationa...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/318791
更新日期：2001-03-01 00:00:00
abstract：:The maximum-likelihood-binomial (MLB) method, based on the binomial distribution of parental marker alleles among affected offspring, recently was shown to provide promising results by two-point linkage analysis of affected-sibship data. In this article, we extend the MLB method to multipoint linkage analysis, using t...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/301958
更新日期：1998-08-01 00:00:00
abstract：:We extend the methodology for family-based tests of association and linkage to allow for both variation in the phenotypes of subjects and incorporation of covariates into general-score tests of association. We use standard association models for a phenotype and any number of predictors. We then construct a score stati...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302782
更新日期：2000-02-01 00:00:00
abstract：:The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogene...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/426953
更新日期：2005-01-01 00:00:00
abstract：:Alcoholism is a complex disease with both genetic and environmental risk factors. To identify genes that affect the risk for alcoholism, we systematically ascertained and carefully assessed individuals in families with multiple alcoholics. Linkage and association analyses suggested that a region of chromosome 4p conta...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/383283
更新日期：2004-04-01 00:00:00
abstract：:Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we descr...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2013.12.012
更新日期：2014-02-06 00:00:00
abstract：:Regional chromosomal mosaicism has been found in tissue from the clitoral mass of an infant presenting with ambiguous genitalia. Chromosome analysis of skin from the clitoral mass was interpreted as 46,XX/52,XX, +2, +7, +8, +12, +13, +20, whereas study of ovarian tissue and peripheral lymphocytes found each to have no...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1984-07-01 00:00:00
abstract：:Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent. We therefore determined sequence variation across the major relevant parts of VDR, including construction o...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/497438
更新日期：2005-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2012.10.007
更新日期：2012-12-07 00:00:00
