Investigation of a Rare CSN1S1⁰¹ Allele in Goats Using Allele-Specific PCR and Mathematical Expectation Analysis

Area of Science:

• Animal Genetics
• Molecular Biology
• Dairy Science

Background:

• The casein alpha s1 (CSN1S1) gene is crucial for milk protein synthesis and calcium metabolism in mammals.
• CSN1S1 gene expression influences milk production traits, with 19 variants identified, including the significant CSN1S1^01 null allele.
• Understanding the CSN1S1^01 allele's impact on economically important traits in goats is limited.

Purpose of the Study:

• To investigate the CSN1S1^01 allele in Chinese goat breeds using cost-effective methods.
• To evaluate the association between the CSN1S1^01 allele and economically important traits in goats.
• To provide evidence for incorporating CSN1S1^01 genetic variation into goat breeding strategies.

Main Methods:

• Mathematical expectation (ME) analysis and allele-specific PCR (AS-PCR) were employed for rapid and economical investigation.
• A total of 2319 goats from 11 Chinese breeds were analyzed.
• Genotypic associations with economic traits were assessed.

Main Results:

• The CSN1S1^01 allele was found at a higher frequency than the CSN1S1^0 allele across all studied populations, indicating low genetic diversity for the '1' allele.
• Significant associations were observed between CSN1S1^01 genotypes and body length, third parity, and average kidding number in Laoshan dairy goats (p < 0.05).
• The low frequency of the CSN1S1^0 allele was confirmed.

Conclusions:

• The CSN1S1^01 allele is widespread in Chinese goat populations.
• CSN1S1^01 genetic variation has a demonstrable association with key economic traits in goats.
• This study supports the integration of CSN1S1^01 allele analysis into goat breeding programs for trait improvement.