Genetics - Chromosome 1: Difference between revisions
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* | * '''Association Between Gene Polymorphisms on Chromosome 1 and Susceptibility to Pre-Eclampsia: An Updated Meta-Analysis'''{{#pmid:27348238|PMID27348238}} "This meta-analysis enabled us to obtain a precise estimation of the association between gene polymorphisms on chromosome 1 (MTHFR, AGT, F5, IL-10, LEPR) and the susceptibility to pre-eclampsia (PE) in order to reach a uniform conclusion. MATERIAL AND METHODS Web of Science, PubMed, EMBASE, Cochran Library (CENTRAL), and Chinese databases (Chinese National Knowledge Infrastructure-CNKI and Wan Fang) were electronically searched to select relevant studies for this meta-analysis. We selected 95 case-control studies investigating 5 genes (MTHFR, AGT, F5, IL-10, and LEPR) with 8 SNPs. Odds ratios (OR) with their 95% confidence intervals (CI) were used for estimating the association. CONCLUSIONS This meta-analysis provides evidence that MTHFR rs1801133 and F5 rs6025 are associated with an increased risk of PE, especially in Caucasians. However, we do not have sufficient evidence to conclude there is a significant association between other gene polymorphisms and PE." | ||
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Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Chromosome+1 ''Chromosome 1''] | Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Chromosome+1 ''Chromosome 1''] | ||
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==Development Genes== | ==Development Genes== | ||
===BMP=== | |||
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| colspan=5|[[Developmental Signals - Bone Morphogenetic Protein|Table - Human Bmp Family]] | |||
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! width=100px|Approved<br>Symbol | |||
! width=220px|Approved Name | |||
! width=100px|Previous<br>Symbols | |||
! width=100px|Synonyms | |||
! Chromosome | |||
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| BMP8A || bone morphogenetic protein 8a || || || {{Chr1}}p34.3 | |||
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| BMP8B || bone morphogenetic protein 8b || BMP8 || OP-2 || {{Chr1}}p34.2 | |||
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{{Bmp family collapsetable}} | |||
===WNT=== | |||
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{{Wnt family collapsetable}} | |||
==Abnormalities=== | |||
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! {{ICD-11}} {{ICD11weblink}}343448541 LD44 Deletions of the autosomes] | |||
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* {{ICD11weblink}}1004815242 LD44.11 Deletions of the short arm of chromosome 1] | |||
* {{ICD11weblink}}296620919 LD44.10 Deletions of the long arm of chromosome 1] | |||
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The {{Chr1}}p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, craniofacial, and airway anomalies. A single patient study identified a persistent {{buccopharyngeal membrane}} and unidentifiable larynx.{{#pmid:24290305|PMID24290305}} | |||
==External Links== | ==External Links== |
Latest revision as of 09:04, 12 May 2019
Introduction
Chromosome territories (interphase) | Chromosome (Chromatin) structure (mitosis) |
Human Chromosomes: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | Y |
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Chromosome 1 |
Development Genes
BMP
Table - Human Bmp Family | ||||
Approved Symbol |
Approved Name | Previous Symbols |
Synonyms | Chromosome |
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BMP8A | bone morphogenetic protein 8a | 1p34.3 | ||
BMP8B | bone morphogenetic protein 8b | BMP8 | OP-2 | 1p34.2 |
Human BMP Family | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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WNT
Table - Human Wnt Family | ||||
Approved Symbol |
Approved Name | Previous Symbols |
Synonyms | Chromosome |
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WNT2B | Wnt family member 2B | WNT13 | XWNT2 | 1p13.2 |
WNT3A | Wnt family member 3A | 1q42.13 | ||
WNT9A | Wnt family member 9A | WNT14 | 1q42.13 | |
Links: Developmental Signals - Wnt | OMIM Wnt1 | HGNC | Bmp Family | Fgf Family | Pax Family | R-spondin Family | Sox Family | Tbx Family | Wnt Family |
Human WNT Family | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Abnormalities=
ICD-11 LD44 Deletions of the autosomes |
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The 1p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, craniofacial, and airway anomalies. A single patient study identified a persistent buccopharyngeal membrane and unidentifiable larynx.[2]
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
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Idiogram Chromosome Banding - The term refers to the light and dark pattern, seen after staining with a dye, of individual chromosomes identified in metaphase. It is only in meiosis and mitosis during metaphase that chromosomes can be easily identified, during the normal cell life (interphase) the chromosomes are unravelled and distributed within the nucleus in chromosome territories. A band is that part of a chromosome which is clearly distinguishable from nearby regions by appearing darker or brighter with one or more banding techniques. | |
Genetic abnormality locations: 1-4 | 5-8 | 9-12 | 13-16 | 17-20 | 21-XY | sSMC | |
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Links: Genetics | Abnormal Development - Genetic |
Cite this page: Hill, M.A. (2024, March 28) Embryology Genetics - Chromosome 1. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_1
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
Cite this page: Hill, M.A. (2024, March 28) Embryology Genetics - Chromosome 1. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_1
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
- ↑ Zhang G, Zhao J, Yi J, Luan Y & Wang Q. (2016). Association Between Gene Polymorphisms on Chromosome 1 and Susceptibility to Pre-Eclampsia: An Updated Meta-Analysis. Med. Sci. Monit. , 22, 2202-14. PMID: 27348238
- ↑ Ferril GR, Barham HP & Prager JD. (2014). Novel airway findings in a patient with 1p36 deletion syndrome. Int. J. Pediatr. Otorhinolaryngol. , 78, 157-8. PMID: 24290305 DOI.