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Table 6 8 pathogenic genetic variants were detected in ≥ 2 subjects

From: Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology

Type

Genetic variants

Allele number

(n)

Gene frequency

(percentage)

1

GJB2: c.235delC

4

3.51%

2

MMACHC: c.658_660delAAG

3

2.63%

3

ACADS: c.1031A > G

2

1.75%

4

OCA2: c.1363A > G

2

1.75%

5

GALC: c.1901 T > C

2

1.75%

6

GJB2: c.299_300delAT

2

1.75%

7

SLC45A2: c.478G > C

2

1.75%

8

MMACHC: c.609G > A

2

1.75%

  1. n, the number of certain genetic variants detected in this study subjects. percentage, the proportion of a gene to the total number of alleles in the gene pool of the study
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BMC Medical Genomics

ISSN: 1755-8794

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