Anti-Müllerian hormone (AMH), a member of the transforming growth factor- superfamily, plays important regulatory roles in follicular development and sex differentiation. Although much has been learned about the impact of polymorphisms of on reproduction in animals, the effect on chicken reproduction is not well explored. In this study, the polymorphism of five exons of gene and its effect on the reproductive performance of Jinghai Yellow chickens were studied. Primers for the amplification of exons were designed, and Sanger sequencing was performed. Finally, only the polymorphism in the second exon of the gene was found in the present population. Polymorphisms in the second exon of the gene in 246 Jinghai Yellow hens and their associations with reproductive traits were analyzed. In total, four single nucleotide polymorphism (SNP) mutations were detected in the second exon of the gene: g.1868A C (AA, aa and Aa); g.1883G A (BB, bb and Bb); g.1987G A (CC, cc and Cc); and g.1996A G (DD, dd and Dd). Only the mutation of g.1996A G affected the reproductive traits: the age of laying first egg (AFE) of dd genotype was significantly ( ) earlier than that in the DD and Dd hens. Moreover, the egg number by 300 d old (EN300) of dd individuals was significantly higher than that of DD and Dd individuals ( ). Thus, we inferred that the dd genotype is the beneficial genotype. Additionally, AFE and EN300 showed significantly better performance in both the H2H2 and H7H7 diplotypes compared with other diplotype individuals ( ). Thus, the H2H2 and H7H7 genotype had the best combination of AFE and EN300. Our study may allow for molecular marker section in poultry breeding.
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http://dx.doi.org/10.5194/aab-64-45-2021 | DOI Listing |
QJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
J Virol
January 2025
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Coronaviruses (CoVs) encode non-structural proteins (nsp's) 1-16, which assemble to form replication-transcription complexes that function in viral RNA synthesis. All CoVs encode a proofreading 3'-5' exoribonuclease in non-structural protein 14 (nsp14-ExoN) that mediates proofreading and high-fidelity replication and is critical for other roles in replication and pathogenesis. The enzymatic activity of nsp14-ExoN is enhanced in the presence of the cofactor nsp10.
View Article and Find Full Text PDFChildren (Basel)
November 2024
Department of Stomatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Background: Tooth agenesis is the most frequently occurring genetic developmental anomaly in clinical dentistry. The gene, essential for tooth development, has been associated with non-syndromic tooth agenesis. This study aims to identify novel variants associated with this condition and to understand their impact on tooth development.
View Article and Find Full Text PDFFront Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFFront Oncol
December 2024
Department of Respiratory and Critical Care Medicine, First Affiliated Hospital of Henan Polytechnic University, Jiaozuo Second People's Hospital, Jiaozuo, China.
Pulmonary giant cell carcinoma (PGCC) is a rare subtype of non-small cell lung cancer (NSCLC) characterized by complex pathology, high rates of misdiagnosis or missed diagnosis, an aggressive clinical course, rapid progression, and poor prognosis. This case report describes a 67-year-old Chinese male with a left upper lobe lung mass, diagnosed CT-guided lung biopsy as PGCC with symptomatic multiple cerebral metastases. The tumor showed strong PD-L1 positivity, and genetic testing revealed a TP53 exon 4 c.
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